(used for variant description)
(last modified May 23, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001178015.1 in the SLC4A10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021401.1, covering SLC4A10 transcript NM_001178015.1.
(upstream sequence)
g.5004
gtgc c.-181
. . . . . . g.5064
aaaacctggccagcagcccgagtgagtaggagccatgtgactctggtgagttggagtgtg c.-121
. . . . . . g.5124
caattgcctcctgcttcagagctacctgatccgaatactaagcagagcgagtgccgggct c.-61
. . . . . . g.5184
gagtgtaagacactgaagacactgcagagcaaggtgcttattccagaggcgttacaaaac c.-1
. . . . | 02 . g.151650
ATGGAGATTAAAGACCAGGGAGCCCAAATGGAGCCGCTGCTGCCTACG | AGAAATGATGAA c.60
M E I K D Q G A Q M E P L L P T | R N D E p.20
. . . . . . g.151710
GAAGCAGTTGTGGATAGAGGTGGAACTCGTTCTATTCTCAAAACACACTTTGAGAAAGAA c.120
E A V V D R G G T R S I L K T H F E K E p.40
. | 03 . . . . . g.185164
GATTTAGAAG | GTCATCGAACACTATTTATTGGAGTACATGTGCCCTTGGGAGGAAGAAAA c.180
D L E G | H R T L F I G V H V P L G G R K p.60
. . . . . . g.185224
AGCCATCGACGTCACAGGCATCGTGGTCATAAACACAGAAAGAGAGACAGAGAAAGAGAT c.240
S H R R H R H R G H K H R K R D R E R D p.80
. . . | 04. . . g.220477
TCAGGATTAGAGGATGGAAGGGAGTCACCTTCTTTTG | ACACCCCATCACAGAGGGTACAG c.300
S G L E D G R E S P S F D | T P S Q R V Q p.100
. . . . . . g.220537
TTTATTCTTGGAACCGAGGATGATGACGAGGAACACATTCCTCATGACCTTTTCACAGAA c.360
F I L G T E D D D E E H I P H D L F T E p.120
. . . . . | 05 . g.235639
CTGGATGAGATTTGTTGGCGTGAAGGTGAGGACGCTGAGTGGCGAGAAACAGCCAG | GTGG c.420
L D E I C W R E G E D A E W R E T A R | W p.140
. . . . . . g.235699
TTGAAGTTTGAAGAAGATGTGGAAGATGGAGGAGAAAGGTGGAGCAAGCCTTATGTGGCT c.480
L K F E E D V E D G G E R W S K P Y V A p.160
. . . . . . g.235759
ACTCTTTCATTGCACAGCTTGTTTGAATTGAGAAGTTGTATTCTGAATGGAACTGTGTTG c.540
T L S L H S L F E L R S C I L N G T V L p.180
. . . | 06. . . g.243562
CTGGACATGCATGCCAACACTTTAGAAGAAATTGCAG | ATATGGTTCTTGACCAACAAGTG c.600
L D M H A N T L E E I A D | M V L D Q Q V p.200
. . . . . . g.243622
AGCTCAGGTCAGCTGAATGAAGATGTACGCCATAGGGTCCATGAGGCATTGATGAAACAG c.660
S S G Q L N E D V R H R V H E A L M K Q p.220
. . . . . . g.243682
CATCATCATCAGAATCAGAAAAAACTCACCAACAGGATTCCCATTGTTCGTTCCTTTGCT c.720
H H H Q N Q K K L T N R I P I V R S F A p.240
. . . . | 07 . . g.252972
GATATTGGCAAGAAACAGTCAGAACCAAATTCCATGGACAAAAATG | CAGGTCAGGTTGTT c.780
D I G K K Q S E P N S M D K N A | G Q V V p.260
. . . . . . g.253032
TCTCCTCAGTCTGCTCCAGCCTGTGTTGAAAATAAAAATGATGTTAGCAGAGAAAACAGC c.840
S P Q S A P A C V E N K N D V S R E N S p.280
. | 08 . . . . g.254623
ACTGTTGACTTTAGCAAG | GGACTGGGAGGCCAACAAAAGGGGCATACTAGTCCATGTGGG c.900
T V D F S K | G L G G Q Q K G H T S P C G p.300
. . . . | 09 . g.259808
ATGAAACAAAGGCATGAAAAAGGACCTCCACACCAGCAAGAGAGAGAG | GTTGATCTGCAT c.960
M K Q R H E K G P P H Q Q E R E | V D L H p.320
. . . . . . g.259868
TTTATGAAAAAGATTCCTCCAGGTGCTGAAGCATCGAACATCTTAGTGGGAGAACTGGAG c.1020
F M K K I P P G A E A S N I L V G E L E p.340
. . . . . . g.259928
TTCTTGGATCGAACAGTAGTTGCGTTTGTCAGGTTGTCTCCAGCTGTATTGCTTCAAGGA c.1080
F L D R T V V A F V R L S P A V L L Q G p.360
. . | 10 . . . . g.263056
CTGGCTGAAGTCCCAATCCCAACCAG | ATTTTTGTTCATTCTTCTGGGACCCCTGGGAAAG c.1140
L A E V P I P T R | F L F I L L G P L G K p.380
. . . . . | 11 . g.275350
GGTCAACAGTACCATGAGATTGGCAGATCAATTGCAACCCTAATGACAGATGAG | GTATTT c.1200
G Q Q Y H E I G R S I A T L M T D E | V F p.400
. . . . . . g.275410
CATGATGTTGCCTATAAAGCTAAAGATCGTAATGACTTGGTATCAGGAATTGATGAGTTT c.1260
H D V A Y K A K D R N D L V S G I D E F p.420
. . . . . . g.275470
CTGGATCAGGTTACTGTTCTCCCTCCTGGAGAATGGGATCCAAGCATTCGAATAGAGCCT c.1320
L D Q V T V L P P G E W D P S I R I E P p.440
. . | 12 . . . . g.281615
CCCAAAAATGTTCCTTCCCAG | GAGAAGAGGAAGATTCCTGCTGTACCAAATGGAACAGCA c.1380
P K N V P S Q | E K R K I P A V P N G T A p.460
. . . . . . g.281675
GCTCATGGGGAAGCAGAGCCCCACGGAGGACATAGTGGACCTGAACTCCAGCGAACTGGA c.1440
A H G E A E P H G G H S G P E L Q R T G p.480
| 13 . . . . . . g.284727
AG | GATTTTTGGGGGACTTATTTTAGATATCAAAAGAAAAGCTCCATACTTCTGGAGTGAC c.1500
R | I F G G L I L D I K R K A P Y F W S D p.500
. . . . . . g.284787
TTCAGAGATGCTTTCAGCCTGCAGTGCTTAGCATCTTTTCTATTTCTCTACTGCGCGTGT c.1560
F R D A F S L Q C L A S F L F L Y C A C p.520
. . . . . | 14. g.285444
ATGTCTCCTGTCATCACGTTTGGAGGACTGCTGGGAGAAGCAACTGAAGGGCGTATA | AGT c.1620
M S P V I T F G G L L G E A T E G R I | S p.540
. . . . . . g.285504
GCAATTGAATCTCTCTTTGGAGCATCCATGACCGGGATAGCCTATTCTCTCTTTGGTGGA c.1680
A I E S L F G A S M T G I A Y S L F G G p.560
. . . . . . g.285564
CAGCCTCTTACCATATTAGGCAGTACAGGACCAGTTTTGGTGTTTGAAAAGATTTTGTTT c.1740
Q P L T I L G S T G P V L V F E K I L F p.580
. | 15 . . . . . g.286356
AAATTTTGCAA | AGAATATGGGCTGTCATACCTATCTTTAAGAGCTAGCATTGGACTTTGG c.1800
K F C K | E Y G L S Y L S L R A S I G L W p.600
. . . . . . g.286416
ACTGCAACTCTATGTATCATACTTGTGGCCACAGATGCTAGTTCCCTTGTCTGCTACATC c.1860
T A T L C I I L V A T D A S S L V C Y I p.620
. . . . . . g.286476
ACTCGGTTTACTGAAGAAGCTTTTGCTTCCCTGATTTGCATCATTTTCATTTATGAGGCC c.1920
T R F T E E A F A S L I C I I F I Y E A p.640
. . . . . . g.286536
CTGGAGAAGTTGTTTGAACTCAGTGAAGCATATCCAATCAACATGCATAATGATCTGGAA c.1980
L E K L F E L S E A Y P I N M H N D L E p.660
. | 16. . . . . g.323500
CTGCTGACACAATACTC | GTGTAACTGTGTGGAACCGCATAATCCCAGCAATGGCACATTG c.2040
L L T Q Y S | C N C V E P H N P S N G T L p.680
. . . . . . g.323560
AAGGAATGGAGGGAATCCAATATTTCTGCCTCTGACATAATTTGGGAGAACCTAACTGTG c.2100
K E W R E S N I S A S D I I W E N L T V p.700
| 17 . . . . . . g.328288
TCA | GAATGCAAATCATTGCATGGAGAGTATGTTGGACGGGCCTGTGGCCATGATCACCCA c.2160
S | E C K S L H G E Y V G R A C G H D H P p.720
. . . . . . g.328348
TATGTTCCAGATGTTCTATTTTGGTCTGTGATCCTGTTCTTTTCCACAGTTACTCTGTCA c.2220
Y V P D V L F W S V I L F F S T V T L S p.740
. . . . | 18 . . g.329828
GCCACCCTGAAGCAGTTCAAGACTAGCAGATATTTTCCAACCAAG | GTTCGATCCATAGTG c.2280
A T L K Q F K T S R Y F P T K | V R S I V p.760
. . . . . . g.329888
AGTGACTTTGCTGTCTTTCTTACAATTCTGTGTATGGTTTTAATTGACTATGCCATTGGG c.2340
S D F A V F L T I L C M V L I D Y A I G p.780
. . . | 19 . . g.331373
ATCCCATCTCCAAAACTACAAGTACCAAGTGTTTTCAAG | CCCACTAGAGATGATCGTGGC c.2400
I P S P K L Q V P S V F K | P T R D D R G p.800
. . . . . . g.331433
TGGTTTGTTACGCCTTTAGGTCCAAACCCATGGTGGACAGTAATAGCTGCTATAATTCCA c.2460
W F V T P L G P N P W W T V I A A I I P p.820
. . . . . . g.331493
GCTCTGCTTTGTACTATTCTAATTTTTATGGACCAACAGATTACAGCTGTCATCATCAAC c.2520
A L L C T I L I F M D Q Q I T A V I I N p.840
. . | 20 . . . . g.337693
AGGAAAGAGCATAAGCTAAAG | AAAGGTTGTGGGTACCATCTGGACCTATTAATGGTGGCT c.2580
R K E H K L K | K G C G Y H L D L L M V A p.860
. . . . . . g.337753
GTCATGCTCGGTGTATGCTCCATCATGGGCCTGCCATGGTTTGTGGCTGCCACAGTCCTC c.2640
V M L G V C S I M G L P W F V A A T V L p.880
. . . . . . g.337813
TCCATCACTCATGTCAATAGCCTAAAACTGGAATCAGAATGCTCAGCTCCAGGAGAACAA c.2700
S I T H V N S L K L E S E C S A P G E Q p.900
. . . . . . g.337873
CCCAAATTTCTCGGCATTCGGGAGCAAAGGGTTACTGGGCTTATGATTTTTATTCTTATG c.2760
P K F L G I R E Q R V T G L M I F I L M p.920
. . . | 21 . . . g.339179
GGTTCATCAGTCTTTATGACCAGTATTCTGAAG | TTTATTCCCATGCCAGTGCTATATGGA c.2820
G S S V F M T S I L K | F I P M P V L Y G p.940
. . . . | 22 . . g.344818
GTGTTTCTTTATATGGGTGCTTCATCTCTAAAGGGAATTCAG | TTCTTTGATAGGATAAAG c.2880
V F L Y M G A S S L K G I Q | F F D R I K p.960
. . . . . . g.344878
CTCTTCTGGATGCCGGCAAAACATCAACCAGATTTTATATACCTAAGGCACGTACCGCTT c.2940
L F W M P A K H Q P D F I Y L R H V P L p.980
. . . . . . g.344938
CGAAAAGTGCATCTCTTCACAATTATTCAGATGAGTTGCCTTGGCCTTTTGTGGATAATA c.3000
R K V H L F T I I Q M S C L G L L W I I p.1000
. . . | 23 . . . g.345740
AAAGTTTCAAGAGCTGCTATTGTCTTTCCCATGATG | GTGTTAGCCCTGGTATTTGTAAGA c.3060
K V S R A A I V F P M M | V L A L V F V R p.1020
. . . . . . g.345800
AAGTTGATGGACTTGTTGTTCACGAAGCGGGAACTCAGCTGGTTGGATGATTTGATGCCC c.3120
K L M D L L F T K R E L S W L D D L M P p.1040
. . . | 24 . . g.354935
GAGAGTAAGAAAAAGAAACTGGAAGATGCTGAAAAAGAA | GAAGAACAAAGTATGCTAGCT c.3180
E S K K K K L E D A E K E | E E Q S M L A p.1060
. . . . | 25. . g.357438
ATGGAAGATGAGGGCACAGTACAACTCCCATTGGAAGGGCACTATAG | AGATGATCCATCT c.3240
M E D E G T V Q L P L E G H Y R | D D P S p.1080
. . . . . . g.357498
GTGATCAATATATCTGATGAAATGTCAAAGACTGCCTTGTGGAGGAACCTTCTGATTACT c.3300
V I N I S D E M S K T A L W R N L L I T p.1100
. . . . | 26 . g.358403
GCCGATAACTCAAAAGATAAGGAGTCAAGCTTTCCTTCCAAAAG | CTCCCCTTCCTAA c.3357
A D N S K D K E S S F P S K S | S P S X p.1118
. . | 27 . . . . g.363881
tcactctagaagctgattccccaaag | cattgaaagccgaaaagagaagaaagctgactca c.*60
. . . . . . g.363941
gggaaaggtgttgacagggagacttgtctatgactcgatcttcaatttattttttacata c.*120
. . . . . . g.364001
tatatgagaagagtgtcacaattattaataaaactgctttgatcatgtattgtaaattct c.*180
. . . . . . g.364061
gtccctcaacccaaatccaccttcatactgtaagtagtgcaatacttgtttcatttctgt c.*240
. . . . . . g.364121
gtttaaacttctgagcagtgagacatccctgtgagcagatacaatagccaatgcaagaat c.*300
. . . . . . g.364181
ctgtgtgttccttgctgtacgttagacatttgtaaactggattctgattgtcagttttat c.*360
. . . . . . g.364241
gagagcaatagcttccttaaagagataagtcatatttacctagtttgtattttcctactt c.*420
. . . . . . g.364301
tagtgacctgaagatgcctgataatttcattcagaagaatttttgaaaggtagtcttact c.*480
. . . . . . g.364361
tctttttagtttttatagcttagcattagtgacttatttcaaaagacccaaatcaaaaag c.*540
. . . . . . g.364421
ttagtttgaaagcattttttaataattgtatttatgcatttccttgatttaatatgataa c.*600
. . . . . . g.364481
atttaatacttaacaatttatatgtaactaaaacttaaagtcatttgaaaaatatataga c.*660
. . . . . . g.364541
aacctatttacaacttgttaaggacaatcagacataatgcagagttaagtagtatttgct c.*720
. . . . . . g.364601
taaaattcaagttgtgactaatgatcaaatactaggcttgtacgaaatgctttagaaaaa c.*780
. . . . . . g.364661
ctttgtaacagttttgtgggatttttcaatataaacctttatcagaaatatactaagttt c.*840
. . . . . . g.364721
gtctcccactgacaacagatgttttccaaataaacatattctatacatacttgtggaatg c.*900
. . . . . . g.364781
ccacatggtgaatcattgtatatgaaattccactcctgtacagttactctgcagctaatg c.*960
. . . . . . g.364841
gtcatgcactgcttaatgctggtcctgaatcatgttctcatgttagaccaacagctctcc c.*1020
. . . . . . g.364901
aattgtcattttttttctgcagagttttttttttccacttttaaattaaatgcatgttgt c.*1080
. . . . . . g.364961
ggaaaaacagtcttttaaaatgaaatttcagattccatttgagaaggttctgtagatatt c.*1140
. . . . . . g.365021
tcagtccatataaaataatacatctttactaaacttatataaggggagagaaagttatga c.*1200
. . . . . . g.365081
agttttggacattactaaaagtacagtatttgatttcactttcaatgaatgtgaagttaa c.*1260
. . . . . . g.365141
taaaactaaatctcataatgctcttggttcctaagaatgagtagtaatcatcaactttat c.*1320
. . . . . . g.365201
aatactccaatattccgttttataataattcagagccctgtggcttttacacaccgttaa c.*1380
. . . . . . g.365261
ttatgtactctgttggaagtgcacatgaaaagtgaagaaaagttcctcttgtgattaaac c.*1440
. . . . . . g.365321
taatgggaggaaataaatcaacaaagtctccattaagttctacattttgagaccttttaa c.*1500
. . . . . . g.365381
aaattcccctcacaattctttaaggagcccccctttttatggaacatgagcctaaaaatt c.*1560
. . . . . . g.365441
atagaaagaagaattttaagttaataaagtttgtatttataaatgctgaaaaaatacaga c.*1620
. . . . . . g.365501
aactttctgttccaaatgtgttgcctttgtgtattttataatacagatactacattgtaa c.*1680
. . . . . . g.365561
acatttccattgttttatgatttagccagtgattccccaaagcagcctcttagtgtttta c.*1740
. . . . . . g.365621
atatattaataactgttttgttaaaaatgatcatagtgaatttaaatcttcacatgatca c.*1800
. . . . . . g.365681
cctatttgaataagcaatcatatccaatgaaattctgtatttctgagtatttttatagtc c.*1860
. . . . . . g.365741
attttgttcttgtgtgaattttaaagctatccctatgttaatcctaatattttgaaatca c.*1920
. . . . . . g.365801
tataaaatataataaaaatgtagtattatatatttacttctaatttcagattcctggtca c.*1980
. . . . . . g.365861
aaattactaaatatcttgaatgtaatttagtgccaagtttaaataatgtgtaaatgtgac c.*2040
. . . . . . g.365921
taggatattgtgtttttcacaattaagaaatgttatgtggaaataaatatttatcctaac c.*2100
. . g.365945
ttccttgcacattttaaattgtga c.*2124
(downstream sequence)
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