(used for variant description)
(last modified October 17, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_006941.3 in the SOX10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007948.1, covering SOX10 transcript NM_006941.3.
(upstream sequence)
. . . g.5038
gtccggccagggtggttggtggtaaggattcaggctcc c.-241
. . . . . . g.5098
gtcctaacgaggccgtggcctgaggctcagggccccccgcccctccctcccagcccacca c.-181
. . . . . . g.5158
gcgtcacctcccagccccgagctggaccgcacaccttgggacacggttttccacttccta c.-121
. . . . | 02 . . g.5688
aggacgagccccagactggaggagaggtccgaggag | gtgggcgttggactctttgcgagg c.-61
. . . . . . g.5748
accccggcggctggcccgggggaggcggccgaggcggcggcggcggcggccgggggcgac c.-1
. . . . . . g.5808
ATGGCGGAGGAGCAGGACCTATCGGAGGTGGAGCTGAGCCCCGTGGGCTCGGAGGAGCCC c.60
M A E E Q D L S E V E L S P V G S E E P p.20
. . . . . . g.5868
CGCTGCCTGTCCCCGGGGAGCGCGCCCTCGCTAGGGCCCGACGGCGGCGGCGGCGGATCG c.120
R C L S P G S A P S L G P D G G G G G S p.40
. . . . . . g.5928
GGCCTGCGAGCCAGCCCGGGGCCAGGCGAGCTGGGCAAGGTCAAGAAGGAGCAGCAGGAC c.180
G L R A S P G P G E L G K V K K E Q Q D p.60
. . . . . . g.5988
GGCGAGGCGGACGATGACAAGTTCCCCGTGTGCATCCGCGAGGCCGTCAGCCAGGTGCTC c.240
G E A D D D K F P V C I R E A V S Q V L p.80
. . . . . . g.6048
AGCGGCTACGACTGGACGCTGGTGCCCATGCCCGTGCGCGTCAACGGCGCCAGCAAAAGC c.300
S G Y D W T L V P M P V R V N G A S K S p.100
. . . . . . g.6108
AAGCCGCACGTCAAGCGGCCCATGAACGCCTTCATGGTGTGGGCTCAGGCAGCGCGCAGG c.360
K P H V K R P M N A F M V W A Q A A R R p.120
. . . . . . g.6168
AAGCTCGCGGACCAGTACCCGCACCTGCACAACGCTGAGCTCAGCAAGACGCTGGGCAAG c.420
K L A D Q Y P H L H N A E L S K T L G K p.140
| 03 . . . . . g.11449
CTCTGGAG | GCTGCTGAACGAAAGTGACAAGCGCCCCTTCATCGAGGAGGCTGAGCGGCTC c.480
L W R | L L N E S D K R P F I E E A E R L p.160
. . . . . . g.11509
CGTATGCAGCACAAGAAAGACCACCCGGACTACAAGTACCAGCCCAGGCGGCGGAAGAAC c.540
R M Q H K K D H P D Y K Y Q P R R R K N p.180
. . . . . . g.11569
GGGAAGGCCGCCCAGGGCGAGGCGGAGTGCCCCGGTGGGGAGGCCGAGCAAGGTGGGACC c.600
G K A A Q G E A E C P G G E A E Q G G T p.200
. . . . . . g.11629
GCCGCCATCCAGGCCCACTACAAGAGCGCCCACTTGGACCACCGGCACCCAGGAGAGGGC c.660
A A I Q A H Y K S A H L D H R H P G E G p.220
. . . | 04. . . g.15357
TCCCCCATGTCAGATGGGAACCCCGAGCACCCCTCAG | GCCAGAGCCATGGCCCACCCACC c.720
S P M S D G N P E H P S G | Q S H G P P T p.240
. . . . . . g.15417
CCTCCAACCACCCCGAAGACAGAGCTGCAGTCGGGCAAGGCAGACCCGAAGCGGGACGGG c.780
P P T T P K T E L Q S G K A D P K R D G p.260
. . . . . . g.15477
CGCTCCATGGGGGAGGGCGGGAAGCCTCACATCGACTTCGGCAACGTGGACATTGGTGAG c.840
R S M G E G G K P H I D F G N V D I G E p.280
. . . . . . g.15537
ATCAGCCACGAGGTAATGTCCAACATGGAGACCTTTGATGTGGCTGAGTTGGACCAGTAC c.900
I S H E V M S N M E T F D V A E L D Q Y p.300
. . . . . . g.15597
CTGCCGCCCAATGGGCACCCAGGCCATGTGAGCAGCTACTCAGCAGCCGGCTATGGGCTG c.960
L P P N G H P G H V S S Y S A A G Y G L p.320
. . . . . . g.15657
GGCAGTGCCCTGGCCGTGGCCAGTGGACACTCCGCCTGGATCTCCAAGCCACCAGGCGTG c.1020
G S A L A V A S G H S A W I S K P P G V p.340
. . . . . . g.15717
GCTCTGCCCACGGTCTCACCACCTGGTGTGGATGCCAAAGCCCAGGTGAAGACAGAGACC c.1080
A L P T V S P P G V D A K A Q V K T E T p.360
. . . . . . g.15777
GCGGGGCCCCAGGGGCCCCCACACTACACCGACCAGCCATCCACCTCACAGATCGCCTAC c.1140
A G P Q G P P H Y T D Q P S T S Q I A Y p.380
. . . . . . g.15837
ACCTCCCTCAGCCTGCCCCACTATGGCTCAGCCTTCCCCTCCATCTCCCGCCCCCAGTTT c.1200
T S L S L P H Y G S A F P S I S R P Q F p.400
. . . . . . g.15897
GACTACTCTGACCATCAGCCCTCAGGACCCTATTATGGCCACTCGGGCCAGGCCTCTGGC c.1260
D Y S D H Q P S G P Y Y G H S G Q A S G p.420
. . . . . . g.15957
CTCTACTCGGCCTTCTCCTATATGGGGCCCTCGCAGCGGCCCCTCTACACGGCCATCTCT c.1320
L Y S A F S Y M G P S Q R P L Y T A I S p.440
. . . . . . g.16017
GACCCCAGCCCCTCAGGGCCCCAGTCCCACAGCCCCACACACTGGGAGCAGCCAGTATAT c.1380
D P S P S G P Q S H S P T H W E Q P V Y p.460
. . g.16038
ACGACACTGTCCCGGCCCTAA c.1401
T T L S R P X p.466
. . . . . . g.16098
agggggccctgtcgccaccaccccccgcccagcccctgcccccagcctgtgtgccctgtt c.*60
. . . . . . g.16158
ccttgcccacctcaggcctggtggtggcagtggaggaggctgaggaggctgaagaggctg c.*120
. . . . . . g.16218
acaggtcggggggctttctgtctggctcactgccctgatgacccacccgccccatccagg c.*180
. . . . . . g.16278
ctccagcagcaaagccccaggagaacaggctggacagaggagaaggaggttgactgttgc c.*240
. . . . . . g.16338
acccacactgaaagatgaggggctgcaccttcccccaggaatgaccctctatcccaggac c.*300
. . . . . . g.16398
ctgagaagggcctgctcaccctcctcggggaggggaagcaccagggttggtggcatcgga c.*360
. . . . . . g.16458
ggccttaccactcctatgactcctgttttctctctcacagatagtgagggtctgacatgc c.*420
. . . . . . g.16518
ccatgccacctatgccacagtgcctaagggctaggccacccagagactgtgcccggagct c.*480
. . . . . . g.16578
ggccgtgtctcccactcaggggctgagagtagctttgaggagcctcattggggagtgggg c.*540
. . . . . . g.16638
ggttcgagggacttagtggagttctcatcccttcaatgccccctccctttctgaaggcag c.*600
. . . . . . g.16698
gaaggagttggcacagaggccccctgatccaattctgtgccaataacctcattctttgtc c.*660
. . . . . . g.16758
tgagaaacagcccccagtcctcctccactacaacctccatgaccttgagacgcatcccag c.*720
. . . . . . g.16818
gaggtgacgaggcaggggctccaggaaaggaatcagagacaattcacagagcctccctcc c.*780
. . . . . . g.16878
ctgggctccttgccagctccctcttcccttactaggctctatggcccctgctcagtcagc c.*840
. . . . . . g.16938
cccactccctgggcttcccagagagtgacagctgctcaggccctaacccttggctccagg c.*900
. . . . . . g.16998
agacacagggcccagcacccaggttgctgtcggcaggctgaagacactagaatcctgacc c.*960
. . . . . . g.17058
tgtacattctgcccttgcctcttaccccttgcctcccagtggtatttgaataaagtatgt c.*1020
. . . . . . g.17118
agctatatctgcccctattttcctgttctgcagccccccaaatccacatgtaactcatta c.*1080
. . . . . . g.17178
ctgtctcctgttatttatctcagtagtcccctctcctagccactctagcccctattaact c.*1140
. . . . g.17221
ctgcattaagcattccacataataaaattaaaggttccggtta c.*1183
(downstream sequence)
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