(used for variant description)
(last modified April 21, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_012463.3 in the ATP6V0A2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012743.1, covering ATP6V0A2 transcript NM_012463.3.
(upstream sequence)
g.5008
gggggcgg c.-241
. . . . . . g.5068
aaccggaaccggcagtggcttgggggcgggacctcgcggactgctgtggcggcagctgga c.-181
. . . . . . g.5128
gcggcggccgcggtggcagaaccgggggcggccgctgcagtctggagccccatagtgcgg c.-121
. . . . . . g.5188
ggccgcggccaggccacaggaagagctcgaggcccgggccgcaccggctgagtgtgcggg c.-61
. . . . . . g.5248
cccgcgcggctcggagccgccgccgcccatcgagcccctccgggcgcgggtcggcccgcc c.-1
. . . . . . g.5308
ATGGGGTCCCTGTTCCGGAGCGAGACCATGTGCCTGGCGCAGCTCTTCCTGCAGTCGGGC c.60
M G S L F R S E T M C L A Q L F L Q S G p.20
. . . . . | 02. g.11308
ACGGCCTACGAGTGCCTCAGCGCCCTGGGCGAGAAAGGCCTGGTCCAGTTCCGAGAC | CTC c.120
T A Y E C L S A L G E K G L V Q F R D | L p.40
. . . . . . g.11368
AACCAGAACGTAAGTTCTTTCCAAAGAAAATTTGTTGGTGAGGTGAAGAGGTGTGAAGAG c.180
N Q N V S S F Q R K F V G E V K R C E E p.60
. | 03 . . . . . g.15077
CTAGAGCGAATATTGG | TGTATTTGGTACAGGAAATTAATAGAGCTGATATTCCCCTTCCT c.240
L E R I L V | Y L V Q E I N R A D I P L P p.80
. . . . . | 04 . g.17342
GAAGGAGAGGCCAGCCCTCCTGCGCCACCCCTGAAACAGGTTCTAGAAATGCAG | GAGCAG c.300
E G E A S P P A P P L K Q V L E M Q | E Q p.100
. . . . . . g.17402
TTGCAGAAGCTCGAGGTTGAACTGAGAGAAGTCACTAAGAACAAGGAGAAACTGAGGAAA c.360
L Q K L E V E L R E V T K N K E K L R K p.120
. . . . . . g.17462
AACTTGCTGGAACTGATAGAGTACACTCACATGCTGAGAGTGACAAAGACCTTTGTGAAA c.420
N L L E L I E Y T H M L R V T K T F V K p.140
. | 05 . . . . . g.18927
CGCAATGTTGAG | TTTGAACCCACTTATGAAGAATTCCCTTCCTTAGAGAGTGATTCTTTG c.480
R N V E | F E P T Y E E F P S L E S D S L p.160
. . . . | 06 . . g.20484
TTGGATTACAGCTGTATGCAGAGGCTGGGAGCAAAACTGGG | ATTTGTGTCTGGCCTAATT c.540
L D Y S C M Q R L G A K L G | F V S G L I p.180
. . . . . . g.20544
AACCAAGGAAAAGTGGAAGCATTTGAAAAAATGTTGTGGAGAGTCTGCAAAGGGTACACC c.600
N Q G K V E A F E K M L W R V C K G Y T p.200
. . . . | 07 . g.26620
ATCGTGTCCTATGCAGAACTGGATGAATCCCTTGAAGACCCTGAAACA | GGGGAAGTCATA c.660
I V S Y A E L D E S L E D P E T | G E V I p.220
. . . . . . g.26680
AAATGGTATGTCTTTTTAATATCCTTTTGGGGAGAGCAGATTGGCCACAAGGTTAAGAAG c.720
K W Y V F L I S F W G E Q I G H K V K K p.240
. | 08 . . . . . g.28262
ATATGTGATTG | CTACCACTGCCACGTGTACCCCTATCCAAACACAGCCGAGGAGCGGAGG c.780
I C D C | Y H C H V Y P Y P N T A E E R R p.260
. . . . | 09 . . g.29756
GAGATCCAGGAGGGGCTGAACACCCGCATCCAGGATCTCTACACT | GTACTGCACAAAACC c.840
E I Q E G L N T R I Q D L Y T | V L H K T p.280
. . . . . . g.29816
GAGGACTATTTGAGGCAAGTGCTATGTAAAGCCGCCGAGTCTGTCTACAGCCGTGTGATC c.900
E D Y L R Q V L C K A A E S V Y S R V I p.300
. . . . . . g.29876
CAGGTGAAGAAAATGAAGGCCATCTATCACATGCTGAACATGTGCAGCTTTGACGTGACC c.960
Q V K K M K A I Y H M L N M C S F D V T p.320
. . . . . . g.29936
AACAAGTGCCTCATTGCTGAGGTCTGGTGTCCCGAGGCGGATCTGCAGGACCTGCGCCGG c.1020
N K C L I A E V W C P E A D L Q D L R R p.340
. | 10 . . . . g.36509
GCACTGGAGGAGGGCTCG | AGAGAGAGTGGTGCTACAATCCCCTCATTCATGAATATAATC c.1080
A L E E G S | R E S G A T I P S F M N I I p.360
. . . . . . g.36569
CCCACAAAAGAAACACCCCCCACTCGGATCCGCACCAACAAATTCACCGAGGGATTTCAG c.1140
P T K E T P P T R I R T N K F T E G F Q p.380
. . . . | 11 . g.36894
AACATCGTGGATGCTTATGGAGTCGGAAGCTACAGAGAAGTCAATCCAG | CTCTCTTTACC c.1200
N I V D A Y G V G S Y R E V N P A | L F T p.400
. . . . . . g.36954
ATCATCACCTTCCCGTTTTTATTTGCTGTGATGTTTGGAGACTTCGGACATGGCTTTGTG c.1260
I I T F P F L F A V M F G D F G H G F V p.420
. . . . . . g.37014
ATGTTTTTATTTGCCCTCTTGTTGGTGTTAAATGAAAATCATCCCAGACTAAATCAGTCA c.1320
M F L F A L L L V L N E N H P R L N Q S p.440
| 12 . . . . . . g.37333
CAAGAG | ATCATGAGGATGTTTTTTAATGGCCGGTACATCCTCCTGCTGATGGGGCTGTTC c.1380
Q E | I M R M F F N G R Y I L L L M G L F p.460
. . . . . . g.37393
TCAGTGTACACTGGCCTCATCTACAACGACTGCTTTTCAAAGTCAGTCAACCTGTTCGGC c.1440
S V Y T G L I Y N D C F S K S V N L F G p.480
. . . . . . g.37453
TCTGGGTGGAACGTGTCGGCCATGTACAGCTCCAGCCACCCACCCGCAGAGCATAAGAAG c.1500
S G W N V S A M Y S S S H P P A E H K K p.500
. | 13 . . . . . g.37610
ATGGTGCTTTGGAA | TGACAGCGTCGTTAGACACAACAGCATTTTGCAGCTGGATCCAAGC c.1560
M V L W N | D S V V R H N S I L Q L D P S p.520
. . . . | 14 . . g.40304
ATTCCTGGAGTGTTCCGAGGCCCTTATCCCCTTGGCATTGATCCT | ATTTGGAACTTGGCC c.1620
I P G V F R G P Y P L G I D P | I W N L A p.540
. . . . . . g.40364
ACAAATCGCCTCACTTTTCTAAACTCTTTCAAAATGAAAATGTCCGTGATTTTAGGAATC c.1680
T N R L T F L N S F K M K M S V I L G I p.560
. . . . | 15 . . g.41273
ATTCATATGACTTTTGGAGTCATTCTGGGAATATTTAACCACTT | GCACTTCAGGAAGAAG c.1740
I H M T F G V I L G I F N H L | H F R K K p.580
. . . . . . g.41333
TTCAACATTTACCTGGTTTCCATCCCGGAACTTCTCTTCATGCTCTGTATCTTTGGATAC c.1800
F N I Y L V S I P E L L F M L C I F G Y p.600
. . . . . . g.41393
CTTATATTTATGATTTTCTACAAGTGGCTGGTTTTTTCAGCAGAAACCTCCAGAGTTGCT c.1860
L I F M I F Y K W L V F S A E T S R V A p.620
. . . . . . g.41453
CCCAGCATTCTGATTGAATTTATTAACATGTTTTTATTCCCAGCCAGTAAAACAAGTGGC c.1920
P S I L I E F I N M F L F P A S K T S G p.640
. | 16 . . . . . g.43837
CTTTACACAGGGCAG | GAGTATGTCCAGAGAGTGCTGCTGGTTGTCACAGCATTGTCTGTC c.1980
L Y T G Q | E Y V Q R V L L V V T A L S V p.660
. . . . . . g.43897
CCTGTCCTCTTCTTGGGAAAGCCACTGTTTTTGTTGTGGCTTCACAATGGGCGTAGTTGC c.2040
P V L F L G K P L F L L W L H N G R S C p.680
. | 17 . . . . . g.45010
TTCGGGGTGAACCGG | AGTGGCTACACACTTATAAGGAAAGATAGTGAGGAAGAAGTTTCA c.2100
F G V N R | S G Y T L I R K D S E E E V S p.700
. . . . . . g.45070
TTGCTGGGAAGCCAAGATATAGAAGAGGGAAATCACCAGGTGGAAGATGGATGTAGAGAA c.2160
L L G S Q D I E E G N H Q V E D G C R E p.720
. | 18 . . . . . g.47147
ATGGCGTGTGAAGAG | TTTAATTTTGGAGAAATATTAATGACCCAAGTAATCCATTCCATC c.2220
M A C E E | F N F G E I L M T Q V I H S I p.740
. . . . . . g.47207
GAGTACTGTCTGGGATGCATCTCCAACACCGCCTCCTACCTGAGGCTCTGGGCGCTTAGC c.2280
E Y C L G C I S N T A S Y L R L W A L S p.760
. | 19 . . . . . g.49544
CTGGCTCACGCAC | AGTTGTCTGATGTCCTGTGGGCCATGCTGATGCGCGTGGGCCTCCGC c.2340
L A H A Q | L S D V L W A M L M R V G L R p.780
. . . . . . g.49604
GTTGACACCACCTATGGCGTCTTGCTACTGCTCCCGGTTATCGCGCTCTTTGCAGTTTTG c.2400
V D T T Y G V L L L L P V I A L F A V L p.800
. . . . . . g.49664
ACCATTTTCATCCTTCTGATCATGGAAGGGCTTTCTGCGTTTCTTCACGCCATACGCCTC c.2460
T I F I L L I M E G L S A F L H A I R L p.820
| 20 . . . . . . g.50664
CACTG | GGTAGAATTTCAGAACAAATTCTACGTTGGTGCAGGCACCAAATTTGTTCCTTTC c.2520
H W | V E F Q N K F Y V G A G T K F V P F p.840
. . . . . g.50715
TCATTCAGTCTACTTTCATCAAAGTTCAATAACGACGACAGTGTGGCATGA c.2571
S F S L L S S K F N N D D S V A X p.856
. . . . . . g.50775
tcatattgctgtaaccaacaagctttcagatttatggagaatgaccatgttatagacttt c.*60
. . . . . . g.50835
cacttatgtcagatttatgataggaaaaattccatcttcattactgccttatgacatagc c.*120
. . . . . . g.50895
caaataattctgtaagatatacctcttcctcatatgttaaatattttgtaaagtttacca c.*180
. . . . . . g.50955
atttgagatataaaaatttcttttggttttttatgatgagcaaatataagttaatgccaa c.*240
. . . . . . g.51015
acgttatgttaaagttattttttcaaatacaggatttggggagagaagccaattttgcat c.*300
. . . . . . g.51075
ggctagttgaaaatggtattagatacttatttcctttaaactttatttaaaacaaacaac c.*360
. . . . . . g.51135
agagttaatctgtcacctgaagttgccagataatattttccaacagctgaagtagggata c.*420
. . . . . . g.51195
gttttttaaaaaatttaatgatgggtaatcaaaacattcacatttattctgctggattta c.*480
. . . . . . g.51255
aaaatatgtactttttttttttttttgagatgaagtcttgctgtgtcacgtaggctggag c.*540
. . . . . . g.51315
tgcaatggcacgatcgtgtctcattgcaacttccgcctcctggattcaggtgattctcct c.*600
. . . . . . g.51375
gtctcagcctcccgagtaactgggattacaggcatgcgccaccgtgaccagctaattttt c.*660
. . . . . . g.51435
ttgtatttttgtagagatggggtttcaccatgttggccaggctggtctcgaacttctgac c.*720
. . . . . . g.51495
ctcaagtgatccacctgcctcggcctccctaagtgctgggattacaggcgtgagccacca c.*780
. . . . . . g.51555
tgcctggccaaaatatgcaaatattttttatcctgtgctacctagaattacaagtagagg c.*840
. . . . . . g.51615
attgtttttacaattttgtcttgttttagtaattggggacaatgggataaaatgacatac c.*900
. . . . . . g.51675
aacaaatggttatcccacttgtatatttttttaaagactcttatcctgttacccttacat c.*960
. . . . . . g.51735
aaaaccagttatgataattgtatgtttggaagataaattgtatgctgagccttaaaaccc c.*1020
. . . . . . g.51795
agtgtgactgtagaagatataatgcggacatgatttgaatttagtgacagcttggctgat c.*1080
. . . . . . g.51855
gtcactgaaccagaagggtttatactgagtgaaggaaaggtaaaaagtagtattttgtat c.*1140
. . . . . . g.51915
atttttgtaacaaaatataaatgaagatattttaccatgaagagattgcacttatccttg c.*1200
. . . . . . g.51975
agaacagtctaaatataaatgaagatattttaccatgaagagattgcacttatccttgag c.*1260
. . . . . . g.52035
aacagtctaatgatactttttttactttcagactgtttctagctaaagttctgataaaag c.*1320
. . . . . . g.52095
tattgagttaatttaaactttcaaacactgtttagatcagttgaaaactaattcttaata c.*1380
. . . . . . g.52155
gccattgttttataatctttagtttaaattcatctgtttgacatttggttttttgtgaac c.*1440
. . . . . . g.52215
ttgagtcagtcctattgaacattttgacctatattcttgcaaattatgttaatttttcat c.*1500
. . . . . . g.52275
attttagtttgattttagacaattattttcaaaaagaaacctgactttttttcaccttct c.*1560
. . . . . . g.52335
tgacattgtgagtgatacacgttaaaaggctatttgcccgcatcctcctctatcctgttt c.*1620
. . . . . . g.52395
cgaggtagagagcttggcacttctgttacaagctgagagtctggaggtgctgagtttaac c.*1680
. . . . . . g.52455
gtggctgtgcagctgatttcaaggcatgagctgaacagcgttgacacagccgtgacttac c.*1740
. . . . . . g.52515
aattaaaccctttcaattacagtacagattctgtgtgctacttgatgagatgttacccaa c.*1800
. . . . . . g.52575
ggccagtttggacttactgctttttgtccctcatattaaattatcaaatgatgccgatga c.*1860
. . . . . . g.52635
aatgcttgaaaatgattctgctctcaaagttatgcttccctagaaaggtgtcatgtcggg c.*1920
. . . . . . g.52695
cacttgtgttgggtgactatgacatcccagcagtgctggtcaggtctcagagttgctttc c.*1980
. . . . . . g.52755
acctagagctgatgcttccacaaggggacatttgtgttactttgctccaggggtctgtca c.*2040
. . . . . . g.52815
taaaaacaatggtaactacttcatccctaggaagcccaagacttcagggcactgttagct c.*2100
. . . . . . g.52875
gattggtaaataagggacacgatattcacgggaattgtttactgctccccactagtaatt c.*2160
. . . . . . g.52935
ctcatggggccacttttttaactctttctaattaacacctcttctcagcatagagcagag c.*2220
. . . . . . g.52995
gatgcagtcatttctctgttgaaatctatgtagtatttatgtagaatgtcattatatgaa c.*2280
. . . . . . g.53055
aagcgaattcagaatcctaactctgggaaagcgctctctggaaatgtagtttgataatag c.*2340
. . . . . . g.53115
tgtcttataggggccacgggaatttgtttctctataaagcgatgggctccagtgtcatgt c.*2400
. . . . . . g.53175
taccagagttatcgctcagttttgtttgttaaggcttttgctagaacctattatgtatcc c.*2460
. . . . . . g.53235
agtttttaaaacatacttcattcccttgatagcagagatccagagcacagatggcaagtt c.*2520
. . . . . . g.53295
gtgtggatgatactgaatatgtttattttcctaaagataaatgtcacgacacgacatttc c.*2580
. . . . . . g.53355
tcagtttttatttagatgtttattaccatgtgttaacagaatcttaaaacccaagggatt c.*2640
. . . . . . g.53415
tcttcagtaaactagactttgattcaacctgctgggctggagactgtaattgccgtggtc c.*2700
. . . . . . g.53475
agttaaggagtgcaaagggtgttctgtctgataggatctgggtgagccctgcggactttc c.*2760
. . . . . . g.53535
cagcagcgaaaggacttggaactcctctttcgctgaatgctgctctgtttctggaatgga c.*2820
. . . . . . g.53595
tattttataacaacattctggtgtcagcatcccctcagcagttgtttatttaaaaatttt c.*2880
. . . . . . g.53655
tttattttttttgagacagtgtctcactctgtcacctaggctgaagtgcagtggtgcagt c.*2940
. . . . . . g.53715
ctcggctcactgcaacctctgcctcctgggtttaagcaattctcctgccctagcctcccg c.*3000
. . . . . . g.53775
agtagctgggattacaggcgcctgccacagtgcccggctaatttttgtatttttagtaga c.*3060
. . . . . . g.53835
gacagggtttcaccatgttggccaggctggtctcaaactcctgacctcaggtgatctacc c.*3120
. . . . . . g.53895
caccttggcctcccaaagtgctgggattacaggcgtgagccaccgcgcctggccctctgc c.*3180
. . . . . . g.53955
agttgtttaataaggcacagaatacctgtagcataggtcagccttacgatgtccatgaat c.*3240
. . . . . . g.54015
tacatattcagacgttttagagcctgatacattttggaaaagaaaaacaacttctacacc c.*3300
. . . . . . g.54075
tattctacagtccgcatttaaaacaataaattcctctattaaaaacgtaaagccgggttt c.*3360
. . . . . . g.54135
gcttgcgtgccacagggaatatatccaggaaggttattatgaagctgtcaaatcaagatg c.*3420
. . . . . . g.54195
atgggaataaggcagtttgaacgaacagtcttcccacagtcaggccatttttgctgattt c.*3480
. . . . . . g.54255
ggtttagaattttcagaaatacttagtacactccacctgttctttgatgggaatatctaa c.*3540
. . . . . . g.54315
gaaggctaggtaggttcttagggttagcctgagtcatctaggggctcaactccttgtgag c.*3600
. . . . . . g.54375
gggaaatgacagtgaacaagttagtactttgctccacaaatgcatgaaaggacaaatttg c.*3660
. . . . . . g.54435
catcttctatcagtatttaacttccttttgctaatgacaaataaatatatctatattttt c.*3720
g.54438
aaa c.*3723
(downstream sequence)
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