(used for variant description)
(last modified November 25, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000339.2 in the SLC12A3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009386.2, covering SLC12A3 transcript NM_000339.2.
(upstream sequence)
. . g.5029
ctggcccctccctggacacccaggcgaca c.-1
. . . . . . g.5089
ATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTC c.60
M A E L P T T E T P G D A T L C S G R F p.20
. . . . . . g.5149
ACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGC c.120
T I S T L L S S D E P S P P A A Y D S S p.40
. . . . . . g.5209
CACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACACG c.180
H P S H L T H S S T F C M R T F G Y N T p.60
. . . . . . g.5269
ATCGATGTGGTGCCCACATATGAGCACTATGCCAACAGCACCCAGCCTGGTGAGCCCCGG c.240
I D V V P T Y E H Y A N S T Q P G E P R p.80
. . . . | 02 . . g.6881
AAGGTCCGGCCCACACTGGCTGACCTGCACTCCTTCCTCAAG | CAGGAAGGCAGACACCTG c.300
K V R P T L A D L H S F L K | Q E G R H L p.100
. . . . . . g.6941
CATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGC c.360
H A L A F D S R P S H E M T D G L V E G p.120
. . . . . . g.7001
GAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAG c.420
E A G T S S E K N P E E P V R F G W V K p.140
| 03 . . . . . g.8141
GGGGTGATG | ATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCC c.480
G V M | I R C M L N I W G V I L Y L R L P p.160
. . | 04 . . . . g.9557
TGGATTACGGCCCAGGCAGGCATCG | TCCTGACCTGGATCATCATCCTGCTGTCGGTCACG c.540
W I T A Q A G I V | L T W I I I L L S V T p.180
. . . . . . g.9617
GTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCA c.600
V T S I T G L S I S A I S T N G K V K S p.200
| 05 . . . . . . g.9948
G | GTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGC c.660
G | G T Y F L I S R S L G P E L G G S I G p.220
. . . . . . g.10008
CTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAG c.720
L I F A F A N A V G V A M H T V G F A E p.240
. . | 06 . . . . g.10458
ACCGTGCGGGACCTGCTCCAG | GAGTATGGGGCACCCATCGTGGACCCCATTAACGACATC c.780
T V R D L L Q | E Y G A P I V D P I N D I p.260
. . . . . . g.10518
CGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAG c.840
R I I A V V S V T V L L A I S L A G M E p.280
. | 07 . . . . . g.12192
TGGGAGTCCAAG | GCCCAGGTGCTGTTCTTCCTTGTCATCATGGTCTCCTTTGCCAACTAT c.900
W E S K | A Q V L F F L V I M V S F A N Y p.300
. . . . . . g.12252
TTAGTGGGGACGCTGATCCCCCCATCTGAGGACAAGGCCTCCAAAGGCTTCTTCAGCTAC c.960
L V G T L I P P S E D K A S K G F F S Y p.320
| 08 . . . . . . g.12505
CGGG | CGGACATTTTTGTCCAGAACTTGGTGCCTGACTGGCGGGGTCCAGATGGCACCTTC c.1020
R A | D I F V Q N L V P D W R G P D G T F p.340
. . . . . . g.12565
TTCGGAATGTTCTCCATCTTCTTCCCCTCGGCCACAGGCATCCTGGCAGGGGCCAACATA c.1080
F G M F S I F F P S A T G I L A G A N I p.360
. | 09 . . . . . g.17915
TCTGGTGACCTCAAG | GACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTC c.1140
S G D L K | D P A I A I P K G T L M A I F p.380
. . . . | 10 . . g.18886
TGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTG | GCTCCTGCGTGGTGCGTGAT c.1200
W T T I S Y L A I S A T I G | S C V V R D p.400
. . . . . . g.18946
GCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCC c.1260
A S G V L N D T V T P G W G A C E G L A p.420
. . . . . . g.19006
TGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTC c.1320
C S Y G W N F T E C T Q Q H S C H Y G L p.440
. | 11 . . . . . g.19380
ATCAACTATTACCAG | ACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGC c.1380
I N Y Y Q | T M S M V S G F A P L I T A G p.460
. . . . . . g.19440
ATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTC c.1440
I F G A T L S S A L A C L V S A A K V F p.480
| 12 . . . . . . g.19980
CAG | TGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGC c.1500
Q | C L C E D Q L Y P L I G F F G K G Y G p.500
. . . . . . g.20040
AAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATC c.1560
K N K E P V R G Y L L A Y A I A V A F I p.520
| 13. . . . . . g.22242
ATCATCG | CTGAGCTCAACACCATAGCCCCCATCATTTCCAACTTCTTCCTCTGCTCCTAT c.1620
I I A | E L N T I A P I I S N F F L C S Y p.540
. . . . | 14 . g.23853
GCCCTCATCAACTTCAGCTGCTTCCACGCCTCCATCACCAACTCGCCTG | GGTGGAGACCT c.1680
A L I N F S C F H A S I T N S P G | W R P p.560
. . . . . . g.23913
TCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATC c.1740
S F Q Y Y N K W A A L F G A I I S V V I p.580
. . . . . . g.23973
ATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTG c.1800
M F L L T W W A A L I A I G V V L F L L p.600
. . | 15 . . . . g.25093
CTCTATGTCATCTACAAGAAGCCAG | AGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCC c.1860
L Y V I Y K K P E | V N W G S S V Q A G S p.620
. . . . . . g.25153
TACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAAC c.1920
Y N L A L S Y S V G L N E V E D H I K N p.640
| 16 . . . . . . g.26212
TACCG | CCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGAC c.1980
Y R | P Q C L V L T G P P N F R P A L V D p.660
. . . . . | 17. g.26749
TTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATC | GGA c.2040
F V G T F T R N L S L M I C G H V L I | G p.680
. . . . . . g.26809
CCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTG c.2100
P H K Q R M P E L Q L I A N G H T K W L p.700
. . . . . . g.26869
AACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGC c.2160
N K R K I K A F Y S D V I A E D L R R G p.720
. | 18 . . . . g.27760
GTCCAGATCCTCATGCAG | GCCGCAGGTCTCGGGAGAATGAAGCCCAACATTCTGGTGGTT c.2220
V Q I L M Q | A A G L G R M K P N I L V V p.740
. . . . . . g.27820
GGGTTCAAGAAGAACTGGCAGTCGGCTCACCCGGCCACAGTGGAAGACTACATTGGCATC c.2280
G F K K N W Q S A H P A T V E D Y I G I p.760
| 19 . . . . . . g.30122
CTCCA | TGATGCCTTTGATTTCAACTATGGCGTGTGTGTCATGAGGATGCGGGAGGGACTC c.2340
L H | D A F D F N Y G V C V M R M R E G L p.780
. . | 20 . . . g.31908
AACGTGTCCAAGATGATGCAGGCGCACA | TTAACCCCGTGTTTGACCCAGCGGAGGACGGG c.2400
N V S K M M Q A H I | N P V F D P A E D G p.800
. . . . | 21 . . g.32760
AAGGAAGCCAGCGCCAGAGGTGCCAGGCCATCAGTCTCTGGCGCTT | TGGACCCCAAGGCC c.2460
K E A S A R G A R P S V S G A L | D P K A p.820
. . . . . . g.32820
CTGGTGAAGGAGGAGCAGGCCACCACCATCTTCCAGTCGGAGCAGGGCAAGAAGACCATA c.2520
L V K E E Q A T T I F Q S E Q G K K T I p.840
. . | 22 . . . g.34356
GACATCTACTGGCTCTTTGACGATGGAG | GCCTCACCCTCCTCATTCCCTATCTCCTTGGC c.2580
D I Y W L F D D G G | L T L L I P Y L L G p.860
. . . . . . g.34416
CGCAAGAGGAGGTGGAGCAAATGCAAGATCCGTGTGTTCGTAGGCGGCCAGATTAACAGG c.2640
R K R R W S K C K I R V F V G G Q I N R p.880
. . | 23 . . . . g.39363
ATGGACCAGGAGAGAAAGGC | GATCATTTCTCTGCTGAGCAAGTTCCGACTGGGATTCCAT c.2700
M D Q E R K A | I I S L L S K F R L G F H p.900
. . . . | 24. . g.42179
GAAGTCCACATCCTCCCTGACATCAACCAGAACCCTCGGGCTGAGCA | CACCAAGAGGTTT c.2760
E V H I L P D I N Q N P R A E H | T K R F p.920
. . . . . . g.42239
GAGGACATGATTGCACCCTTCCGTCTGAATGATGGCTTCAAGGATGAGGCCACTGTCAAC c.2820
E D M I A P F R L N D G F K D E A T V N p.940
. . . . . . g.42299
GAGATGCGGCGGGACTGCCCCTGGAAGATCTCAGATGAGGAGATTACGAAGAACAGAGTC c.2880
E M R R D C P W K I S D E E I T K N R V p.960
| 25 . . . . . . g.44245
AAG | TCCCTTCGGCAGGTGAGGCTGAATGAGATTGTGCTGGATTACTCCCGAGACGCTGCT c.2940
K | S L R Q V R L N E I V L D Y S R D A A p.980
. | 26 . . . . . g.53106
CTCATCGTCAT | CACTTTGCCCATAGGGAGGAAGGGGAAGTGCCCCAGCTCGCTGTACATG c.3000
L I V I | T L P I G R K G K C P S S L Y M p.1000
. . . . . . g.53166
GCCTGGCTGGAGACCCTGTCCCAGGACCTCAGACCTCCAGTCATCCTGATCCGAGGAAAC c.3060
A W L E T L S Q D L R P P V I L I R G N p.1020
. . . g.53199
CAGGAAAACGTGCTCACCTTTTACTGCCAGTAA c.3093
Q E N V L T F Y C Q X p.1030
. . . . . . g.53259
ctccaggctttgacatccctgtccacagctctgagtgtgtgggataagttggaacttgat c.*60
. . . . . . g.53319
tgcctctagtccacagggatgagactcatgttctgttgcactttaagtggcagcatctga c.*120
. . . . . . g.53379
tgatctcaccgaaaaagatggtagatttccaaatctggctggactccacttccatgggac c.*180
. . . . . . g.53439
acattccctgggtcttgtgtttataggctagagaaatagcagatggagctgcaaggaaaa c.*240
. . . . . . g.53499
ctctctaaagcatcctattccttttaaaggatttcttttgattttgatgaccattaatta c.*300
. . . . . . g.53559
agagttcagtctttgatttgtatgcaaattggagtcccaatgctgggcgtgaatcttgac c.*360
. . . . . . g.53619
agtttctacagaccttcctgggtgaaagttcctaaatcatgccctgcttcctccaatagg c.*420
. . . . . . g.53679
agaatgggagcctcacctgtaggacctacaggctctctaaggaatgcaggtctctctctg c.*480
. . . . . . g.53739
agcctccacagccaggcaaatacatatatatatattttttttttagatgaagttttttct c.*540
. . . . . . g.53799
cttgttgcccaggctagggtgtaatggcatgatctcaggtcactgcaacctcctcccggg c.*600
. . . . . . g.53859
ttcaagcatttcttctgtctcagcctcccgaatagctgggattacaggcacctgccatca c.*660
. . . . . . g.53919
cacgagctaatttttgtatttttagtagagatggggtttcaccatgttgaccaggctggt c.*720
. . . . . . g.53979
gttgagctcctgacctcaggtgatccacccacctcggtctcccaaagtgctggggttaca c.*780
. . . . . . g.54039
ggcctgagccactgcgcccggcccaggcaaatttcttgaaccacttctcactcccgtcac c.*840
. . . . . . g.54099
tttcaataaggggtctttgatgtcttcactggttctttggacgagggacttttcgaactt c.*900
. . . . . . g.54159
ttttggttgcaacacacagtaagaaatatacttcacactgagacttgcagcgcacacaca c.*960
. . . . . . g.54219
cggaaacgaccaaaacaaaaatgtcacaaaacaatacttacccttccctgggggacgtcc c.*1020
. . . . . . g.54279
tccagtatgttctgttctgtttatttttcactgttggttgcaatccaataaaatgacttt c.*1080
. . . . . . g.54339
gggatccactcatgggtggggacccacacatttgaaaggcatggccacctttctgttgtg c.*1140
. . . . . . g.54399
ccttgcatttgtccacacacagggagtctggctgagctggggaaaggccacggctgggtg c.*1200
. . . . . . g.54459
tcattgccattttcccagctcatctcaccgggaagaaaagcagattgacagaacacgtga c.*1260
. . . . . . g.54519
ggaggggtattgatggcaggagagtcaaaaaagagttttaaagaaggggcaaggttgaag c.*1320
. . . . . . g.54579
gagtctagtggcaagggtaagatttcaggcatggttaagaacagacgacaaggatgtcag c.*1380
. . . . . . g.54639
gaatgaagatgtggagaggggtgtagagatggcaaggttggcaaggaacagataggcagg c.*1440
. . . . . . g.54699
agcaggtccaagccaagcctagcccaagaccaggtgaaaggagaggggaggaggagccac c.*1500
. . . . . . g.54759
ctgcaagagatggaaagagcaggcggcagagggggctggcagggaggggctgttaagagt c.*1560
. . . . . . g.54819
ggggttggaggtgggagagaagctaggacaagggagatggagaaaggacctatacctggc c.*1620
. . . . . . g.54879
tcacggaaggccttcaggtcactacacgttgaacatccccagtgtttgagcccccaaagc c.*1680
. . . . . . g.54939
tagggtgcaagagcactgccatcgaatgccagtgggtgaggccaagtgagggtatttgca c.*1740
. . . . . . g.54999
gctctagacataaccaagaagcgtaaaggtgagttgtttggtggtacgactgcctgtgcc c.*1800
. . . . . . g.55059
ttcttccgatggcactggggtggctgaaggaacagacatctttgggtttcatcagcctcc c.*1860
. . . . . . g.55119
tccaagactgctgcagtgcctacactttagacttcagaaggagactaaagacttctagaa c.*1920
. . . . . . g.55179
tttagaaggagatctgaagtctcctttctggagttacaacccaaaggatgttagcatttc c.*1980
. . . . . . g.55239
tcaggtcatcccactgcaaagcccagaaggcttggggctcccaggctgctctgaagcccc c.*2040
. . . . . . g.55299
actgtctgaccgcctcagggcttgctacgagggactggggcacggccaagctgactagga c.*2100
. . . . . . g.55359
acagctctcgtgctcctgagggacctggaggatgggcctgcctcccagccattgagctgg c.*2160
. . . . . . g.55419
attctgggataattcttaactcgaaataaggggaagcatccatcagggaatgctggcctt c.*2220
. . . . . . g.55479
tctagagccacgtagaaaacaattttctggttcttcaaacctcaaagagtccttggtcca c.*2280
. . . . . . g.55539
aaaaacagaatgttttggcttcgggtgtcaaaaaaaaaattttcacgatgtcagaaatag c.*2340
. . . . . . g.55599
tatgtttttaacaatagtaatagctttgtaaaaaaataaaaagctttaacagcgaggcca c.*2400
. . . . g.55644
taaacaatgaaatgaataaaaacggtggtcattcagtcaacggaa c.*2445
(downstream sequence)
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