(used for variant description)
(last modified February 4, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_012140.4 in the SLC25A10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering SLC25A10 transcript NM_012140.4.
(upstream sequence)
. g.5011
aatcgcagggg c.-181
. . . . . . g.5071
gcgtggcctagcggtcccgcccccggggcgcgcgcgcgcattggctgtgcggggtgcggg c.-121
. . . . . . g.5131
cgcgcgggcggcgctttgaaccgggcgcggggcgcggggcgcggggcgctgcggccggta c.-61
. . . . . . g.5191
cacgccggggtagggccggggtcgggttgtggtcgggccgggattgggctctcctgggcc c.-1
. . . . . . g.5251
ATGGCAGCCGAGGCGCGCGTGTCGCGCTGGTACTTCGGGGGGCTGGCCTCCTGCGGGGCC c.60
M A A E A R V S R W Y F G G L A S C G A p.20
. . . | 02 . . . g.7744
GCCTGCTGCACGCACCCGCTGGACCTGCTCAAG | GTGCATCTGCAGACGCAGCAGGAGGTG c.120
A C C T H P L D L L K | V H L Q T Q Q E V p.40
. . . . . . g.7804
AAGCTGCGCATGACGGGCATGGCGCTGCGGGTGGTGCGTACCGACGGCATCCTGGCACTC c.180
K L R M T G M A L R V V R T D G I L A L p.60
. . . | 03 . . . g.8269
TACAGCGGCCTGAGCGCCTCGCTGTGCAGACAG | ATGACCTACTCCCTGACTCGGTTCGCC c.240
Y S G L S A S L C R Q | M T Y S L T R F A p.80
. . . . . . g.8329
ATCTACGAGACTGTGCGGGACCGTGTGGCCAAGGGCAGCCAGGGGCCTCTCCCCTTCCAC c.300
I Y E T V R D R V A K G S Q G P L P F H p.100
. . | 04 . . . g.8489
GAGAAGGTGTTGCTGGGCTCCGTCAGCG | GTTTAGCTGGAGGCTTCGTGGGGACGCCCGCA c.360
E K V L L G S V S G | L A G G F V G T P A p.120
. | 05. . . . | 06 g.9577
GACTTGGTCAACGTCAG | GATGCAGAACGACGTGAAGCTGCCCCAGGGTCAGCGGCGCAA | C c.420
D L V N V R | M Q N D V K L P Q G Q R R N | p.140
. . . . | 07 . . g.9783
TACGCCCATGCGCTGGATGGCCTGTACCGCGTAGCTCGTGAAG | AGGGTCTCAGGAGACTG c.480
Y A H A L D G L Y R V A R E E | G L R R L p.160
. . . . . | 08 . g.10169
TTCTCGGGTGCAACCATGGCATCCAGCCGAGGGGCCTTAGTCACTGTGGGCCAG | CTGTCC c.540
F S G A T M A S S R G A L V T V G Q | L S p.180
. . . . . . g.10229
TGCTACGACCAGGCCAAGCAGCTGGTCCTTAGCACCGGGTACCTCTCTGACAACATCTTC c.600
C Y D Q A K Q L V L S T G Y L S D N I F p.200
. . | 09. . . . g.10581
ACTCACTTTGTCGCCAGCTTTATTGCA | GGTGGATGTGCCACGTTCCTGTGCCAGCCCCTG c.660
T H F V A S F I A | G G C A T F L C Q P L p.220
. . . . | 10 . . g.12610
GATGTGCTGAAGACTCGCCTGATGAACTCCAAGGGGGAGTATCAG | GGCGTTTTCCACTGC c.720
D V L K T R L M N S K G E Y Q | G V F H C p.240
. . . . | 11 . . g.12758
GCCGTGGAGACAGCGAAGCTCGGGCCTCTGGCCTTTTACAAG | GGCCTCGTCCCAGCTGGC c.780
A V E T A K L G P L A F Y K | G L V P A G p.260
. . . . . . g.12818
ATCCGCCTCATCCCCCACACCGTGCTCACTTTTGTGTTTCTGGAACAGCTACGCAAAAAC c.840
I R L I P H T V L T F V F L E Q L R K N p.280
. . g.12842
TTTGGCATCAAAGTGCCATCCTGA c.864
F G I K V P S X p.287
. . . . . . g.12902
ccagccgtgggaatggctgggctgccaggccagacacgctaggttcttccaaagagtccc c.*60
. . . . . . g.12962
aagcccagcacctgctcctggggccacgacctccctggccgtggccacccgtcctccgca c.*120
. . . . . . g.13022
gcaggcccctgctgtccccccacctgctggctgagctcctcctggcctcgtcccctctca c.*180
. . . . . . g.13082
gctgtagctgcaccacccccgctctggctaccaggctctcccggctgggcactgcgtggc c.*240
. . . . . . g.13142
cttgcccctctcccgctggcagctcctcaggggaacaggggctaccagaggctgatttct c.*300
. . . . . . g.13202
cccctctcctgggccaggggaggggtattatccctgcctcctgcccccgatgcccaaagc c.*360
. . . . . . g.13262
agcatcttccagcactttccatcgaggacttgggtggcagagtgtgggtgcagcctggct c.*420
. . . . . . g.13322
gttgctcacccaagtgctagctctgcacttcgtgtctgctgagagcaaccagaccttcca c.*480
. . . . . . g.13382
tgtcctcgggcagctgcaactccccgcgagaccccgcagctgggtgggatgaacaagcaa c.*540
. . . . . . g.13442
cgcagaccacaagcgagtgcctgggagggagtggcccagggtggttctggagccattgtg c.*600
. . . . . . g.13502
ggtgagggtcgagggccaccgaggtcccgcgcaccgctgcctgccctgcagtggctttaa c.*660
. . . . . . g.13562
cagttagttttgccaaagcctctccactcaccagcaggcggtctctgtcttcagggattg c.*720
. . . . . . g.13622
tgcctgcgtccctcgggcacctgggcccccccgcttggctccctgggggaatggcccagg c.*780
. . . . . . g.13682
cgggccgcggttcctccttagggccttctccccgacaaggagtccgacggggcggatgct c.*840
. . . . . . g.13742
gcatcctctgcctccctggtcgctgggcttcaccccacctgggaagggcagtgtgctctg c.*900
. . . g.13781
tgggggctgcaatcaataaatgccgggagctgccacatc c.*939
(downstream sequence)
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