(used for variant description)
(last modified November 10, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_052961.3 in the SLC26A8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering SLC26A8 transcript NM_052961.3.
(upstream sequence)
. g.5015
gcccggaacgcccgc c.-121
. . . . . . g.5075
gggctaggccacaacggctcgggaaccgccgccggtatccgcgtccgcagcgccgccagc c.-61
. . . . . . | 02 g.9929
caggcgagagccgtgtgggatcccagcgcccgcactcccgcccccgccaaggagccag | ga c.-1
. . . . . . g.9989
ATGGCACAACTAGAGAGGAGCGCCATCTCTGGCTTCAGCTCTAAGTCCAGGCGAAACTCA c.60
M A Q L E R S A I S G F S S K S R R N S p.20
. . . . . . g.10049
TTCGCATATGATGTTAAGCGTGAAGTATACAATGAGGAGACCTTTCAACAGGAACACAAA c.120
F A Y D V K R E V Y N E E T F Q Q E H K p.40
. . . . . . g.10109
AGGAAGGCCTCCTCTTCTGGGAACATGAACATCAACATCACCACCTTCAGACACCACGTC c.180
R K A S S S G N M N I N I T T F R H H V p.60
| 03 . . . . . g.17316
CAGTGCCG | CTGCTCATGGCACAGGTTCCTACGATGCGTGCTTACAATCTTTCCCTTCCTA c.240
Q C R | C S W H R F L R C V L T I F P F L p.80
. . . . . . g.17376
GAATGGATGTGTATGTATCGATTAAAGGATTGGCTTCTGGGAGACTTACTTGCTGGTATA c.300
E W M C M Y R L K D W L L G D L L A G I p.100
. . | 04 . . . g.29560
AGTGTTGGCCTTGTGCAAGTTCCCCAAG | GCCTGACACTTAGTTTGCTGGCAAGGCAACTG c.360
S V G L V Q V P Q G | L T L S L L A R Q L p.120
. . . . . . g.29620
ATTCCTCCTCTCAACATCGCTTATGCAGCTTTCTGTTCTTCGGTAATCTATGTAATTTTT c.420
I P P L N I A Y A A F C S S V I Y V I F p.140
. . | 05 . . . . g.31752
GGATCGTGTCATCAAATGTCCATTG | GTTCCTTCTTCCTGGTGAGTGCTCTGCTGATCAAC c.480
G S C H Q M S I G | S F F L V S A L L I N p.160
. . . . . . g.31812
GTTCTGAAAGTGAGCCCATTCAACAACGGTCAACTGGTCATGGGATCTTTCGTCAAGAAT c.540
V L K V S P F N N G Q L V M G S F V K N p.180
. . . . . . g.31872
GAGTTTTCGGCCCCCTCCTACCTTATGGGCTATAATAAATCCTTGAGTGTGGTGGCAACC c.600
E F S A P S Y L M G Y N K S L S V V A T p.200
. . | 06. . . . g.36995
ACAACTTTTCTGACTGGGATTATTCAG | CTAATAATGGGCGTATTGGGTTTGGGCTTCATT c.660
T T F L T G I I Q | L I M G V L G L G F I p.220
. . . . . . g.37055
GCCACTTACCTTCCGGAGTCTGCAATGAGTGCTTACCTGGCTGCTGTGGCACTTCATATC c.720
A T Y L P E S A M S A Y L A A V A L H I p.240
. . . . . . g.37115
ATGCTGTCCCAGCTGACTTTCATCTTTGGGATTATGATTAGTTTCCATGCCGGTCCCATC c.780
M L S Q L T F I F G I M I S F H A G P I p.260
. | 07 . . . . . g.37876
TCCTTCTTCTAT | GACATAATTAATTACTGTGTAGCTCTCCCAAAAGCGAATTCCACCAGC c.840
S F F Y | D I I N Y C V A L P K A N S T S p.280
. . . . . . g.37936
ATTCTAGTATTTCTAACTGTTGTTGTTGCTCTGCGAATCAACAAATGTATCAGAATTTCT c.900
I L V F L T V V V A L R I N K C I R I S p.300
. . . . | 08 . . g.47451
TTCAATCAGTATCCCATTGAGTTTCCCATGGAATTATTTCTG | ATTATTGGCTTCACTGTG c.960
F N Q Y P I E F P M E L F L | I I G F T V p.320
. . . . . . g.47511
ATTGCAAACAAGATAAGCATGGCCACAGAAACCAGCCAGACGCTTATTGACATGATTCCT c.1020
I A N K I S M A T E T S Q T L I D M I P p.340
| 09 . . . . . . g.52340
TATAG | CTTTCTGCTTCCTGTAACACCAGATTTCAGCCTTCTTCCCAAGATAATTTTACAA c.1080
Y S | F L L P V T P D F S L L P K I I L Q p.360
. . . . . . g.52400
GCCTTCTCCTTATCTTTGGTGAGCTCCTTTCTGCTCATATTTCTGGGCAAGAAGATTGCC c.1140
A F S L S L V S S F L L I F L G K K I A p.380
. . . | 10 . . . g.54175
AGTCTTCACAATTACAGTGTCAATTCCAACCAG | GATTTAATAGCCATCGGCCTTTGCAAT c.1200
S L H N Y S V N S N Q | D L I A I G L C N p.400
. . . . . . g.54235
GTCGTCAGTTCATTTTTCAGATCTTGTGTGTTTACTGGTGCTATTGCTAGGACTATTATC c.1260
V V S S F F R S C V F T G A I A R T I I p.420
. . | 11. . . . g.60715
CAGGATAAATCTGGAGGAAGACAACAG | TTTGCATCTCTGGTAGGCGCAGGTGTGATGCTG c.1320
Q D K S G G R Q Q | F A S L V G A G V M L p.440
. . . . | 12 . . g.67030
CTCCTGATGGTGAAGATGGGACACTTTTTCTACACACTGCCAAAT | GCTGTGCTGGCTGGT c.1380
L L M V K M G H F F Y T L P N | A V L A G p.460
. . . . . . g.67090
ATTATTCTGAGCAACGTCATTCCCTACCTTGAAACCATTTCTAACCTACCCAGCCTGTGG c.1440
I I L S N V I P Y L E T I S N L P S L W p.480
. . | 13 . . . . g.68576
AGGCAGGACCAATATGACTGT | GCTCTTTGGATGATGACATTCTCATCTTCAATTTTCCTG c.1500
R Q D Q Y D C | A L W M M T F S S S I F L p.500
. . . . . . g.68636
GGACTGGACATTGGACTAATTATCTCAGTAGTTTCTGCTTTCTTCATCACCACTGTTCGT c.1560
G L D I G L I I S V V S A F F I T T V R p.520
| 14 . . . . . g.68776
TCACACAG | AGCTAAGATTCTTCTCCTGGGTCAAATCCCTAACACCAACATTTATAGAAGC c.1620
S H R | A K I L L L G Q I P N T N I Y R S p.540
. | 15 . . . . g.69872
ATCAATGATTATCGGGAG | ATCATCACCATTCCTGGGGTGAAAATCTTCCAGTGCTGCAGC c.1680
I N D Y R E | I I T I P G V K I F Q C C S p.560
. . . . . | 16 . g.70054
TCAATTACATTTGTAAATGTTTACTACCTAAAGCATAAGCTGTTAAAAGAG | GTTGATATG c.1740
S I T F V N V Y Y L K H K L L K E | V D M p.580
. . . . . . g.70114
GTAAAGGTGCCTCTTAAAGAAGAAGAAATTTTCAGCTTGTTTAATTCAAGTGACACCAAT c.1800
V K V P L K E E E I F S L F N S S D T N p.600
. . . . . . g.70174
CTACAAGGAGGAAAGATTTGCAGGTGTTTCTGCAACTGTGATGATCTGGAGCCGCTGCCC c.1860
L Q G G K I C R C F C N C D D L E P L P p.620
| 17 . . . . . . g.74173
AGG | ATTCTTTACACAGAGCGATTTGAAAATAAACTGGATCCCGAAGCATCCTCCATTAAC c.1920
R | I L Y T E R F E N K L D P E A S S I N p.640
. . . . . . g.74233
CTGATTCACTGCTCACATTTTGAGAGCATGAACACAAGCCAAACTGCATCCGAAGACCAA c.1980
L I H C S H F E S M N T S Q T A S E D Q p.660
. . . . . . g.74293
GTGCCATACACAGTATCGTCCGTGTCTCAGAAAAATCAAGGGCAACAGTATGAGGAGGTG c.2040
V P Y T V S S V S Q K N Q G Q Q Y E E V p.680
. . . . . . g.74353
GAGGAAGTTTGGCTTCCTAATAACTCATCAAGAAACAGCTCACCAGGACTGCCTGATGTG c.2100
E E V W L P N N S S R N S S P G L P D V p.700
. . . . . . g.74413
GCGGAAAGCCAGGGGAGGAGATCACTCATCCCTTACTCAGATGCGTCTCTACTGCCCAGT c.2160
A E S Q G R R S L I P Y S D A S L L P S p.720
. . . . . . g.74473
GTCCACACCATCATCCTGGATTTCTCCATGGTACACTACGTGGATTCACGGGGGTTAGTC c.2220
V H T I I L D F S M V H Y V D S R G L V p.740
. | 18 . . . . . g.78185
GTATTAAGACAG | ATATGCAATGCCTTTCAAAACGCCAACATTTTGATACTCATTGCAGGG c.2280
V L R Q | I C N A F Q N A N I L I L I A G p.760
| 19. . . . . . g.78342
TGTCACT | CTTCCATAGTCAGGGCATTTGAGAGGAATGATTTCTTTGACGCTGGCATCACC c.2340
C H S | S I V R A F E R N D F F D A G I T p.780
. . . . . . g.78402
AAGACCCAGCTGTTCCTCAGCGTTCACGACGCCGTGCTGTTTGCCTTGTCAAGGAAGGTC c.2400
K T Q L F L S V H D A V L F A L S R K V p.800
. . . . . . g.78462
ATAGGCTCCTCTGAGTTAAGCATCGATGAATCCGAGACAGTGATACGGGAAACCTACTCA c.2460
I G S S E L S I D E S E T V I R E T Y S p.820
. | 20 . . . . . g.85344
GAAACAGACAAG | AATGACAATTCAAGATATAAAATGAGCAGCAGTTTTCTAGGAAGCCAA c.2520
E T D K | N D N S R Y K M S S S F L G S Q p.840
. . . . . . g.85404
AAAAATGTAAGTCCAGGCTTCATCAAGATCCAACAGCCTGTAGAAGAGGAGTCGGAGTTG c.2580
K N V S P G F I K I Q Q P V E E E S E L p.860
. . . . . . g.85464
GATTTGGAGCTGGAATCAGAACAAGAGGCTGGGCTGGGTCTGGACCTAGACCTGGATCGG c.2640
D L E L E S E Q E A G L G L D L D L D R p.880
. . . . . . g.85524
GAGCTGGAGCCTGAAATGGAGCCCAAGGCTGAGACCGAGACCAAGACCCAGACCGAGATG c.2700
E L E P E M E P K A E T E T K T Q T E M p.900
. . . . . . g.85584
GAGCCCCAGCCTGAGACTGAGCCTGAGATGGAGCCCAACCCCAAATCTAGGCCAAGAGCT c.2760
E P Q P E T E P E M E P N P K S R P R A p.920
. . . . . . g.85644
CACACTTTTCCTCAGCAGCGTTACTGGCCTATGTATCATCCGTCTATGGCTTCCACCCAG c.2820
H T F P Q Q R Y W P M Y H P S M A S T Q p.940
. . . . . . g.85704
TCTCAGACTCAGACTCGGACATGGTCAGTGGAGAGGAGACGCCATCCTATGGATTCATAC c.2880
S Q T Q T R T W S V E R R R H P M D S Y p.960
. . . g.85737
TCACCAGAGGGCAACAGCAATGAAGATGTCTAG c.2913
S P E G N S N E D V X p.970
. . . . . . g.85797
gagatgaactagaaataaggggtcagataatgctggcaaatcctcctacccaaaaagggg c.*60
. . . . . . g.85857
tcaattgtccagagacctagactggatacgaactagcagtacttccttcctgactgtgac c.*120
. . . . . . g.85917
tcctactacctgccagccttcttccttgctctgcgctgggatcatactcccaaatcacat c.*180
. . . . . . g.85977
tactaaatgccaacaattatctctgaattccctatccaggctcccctcatttcaccttca c.*240
. . . . . . g.86037
gcatatattctagtcatgaatttccttcttcacacaccccacatctctgggctttgtgcc c.*300
. . . . . . g.86097
agaccatctctaacttaatcctctcatccctgttcccctttctccaaagagatgaagctc c.*360
. . g.86123
aaataaaatgtataactctagtaaca c.*386
(downstream sequence)
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