(used for variant description)
(last modified February 4, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_178526.4 in the SLC25A42 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering SLC25A42 transcript NM_178526.4.
(upstream sequence)
. . . g.5036
gaggcggggccgtggcggctggaggtagcggcggcg c.-121
. . . . . . g.5096
gcgacgcgtccgggccggtgagggggcgcggggggcgccgggggggcccaagcgtcagcg c.-61
. . . | 02 . . . g.37131
gcccgcgcctgtcgggctgaactgag | gaccgagtctcctgccattccgagcaggcctggt c.-1
. . . . . . g.37191
ATGGGTAATGGTGTGAAGGAAGGCCCGGTGCGATTGCATGAGGATGCTGAGGCTGTCCTG c.60
M G N G V K E G P V R L H E D A E A V L p.20
. . | 03 . . . . g.42826
TCCTCGTCCGTCTCATCAAAG | CGTGACCACAGGCAAGTGCTCAGCTCCCTGCTGTCTGGG c.120
S S S V S S K | R D H R Q V L S S L L S G p.40
. . . . . . g.42886
GCCCTGGCTGGTGCCCTTGCCAAAACAGCGGTAGCTCCCCTGGACCGAACCAAAATCATC c.180
A L A G A L A K T A V A P L D R T K I I p.60
| 04. . . | 05 . . . g.46594
TTCCAAG | TGTCTTCAAAAAGATTTTCTGCCAAG | GAGGCCTTCCGGGTCCTCTACTACACC c.240
F Q V | S S K R F S A K | E A F R V L Y Y T p.80
. . . . . . g.46654
TACCTCAACGAGGGATTTCTCAGCTTGTGGCGCGGGAACTCGGCCACCATGGTGCGCGTG c.300
Y L N E G F L S L W R G N S A T M V R V p.100
. . . . . . g.46714
GTGCCCTACGCCGCCATCCAGTTCAGCGCACACGAGGAGTACAAGCGCATCCTGGGCAGC c.360
V P Y A A I Q F S A H E E Y K R I L G S p.120
. . | 06 . . . . g.47315
TACTATGGCTTCCGTGGAGA | AGCCCTGCCCCCTTGGCCTCGCCTCTTCGCCGGCGCACTG c.420
Y Y G F R G E | A L P P W P R L F A G A L p.140
. . . . . . g.47375
GCTGGAACGACAGCCGCTTCACTGACCTACCCCCTGGACCTGGTCAGAGCGCGGATGGCC c.480
A G T T A A S L T Y P L D L V R A R M A p.160
. | 07. . . . . g.48943
GTAACCCCGAAGGAAAT | GTACAGCAACATCTTTCATGTCTTCATCCGCATCTCGAGAGAA c.540
V T P K E M | Y S N I F H V F I R I S R E p.180
. . . . . . g.49003
GAGGGGCTGAAGACTCTCTACCATGGATTTATGCCCACCGTGCTGGGGGTCATTCCCTAC c.600
E G L K T L Y H G F M P T V L G V I P Y p.200
. . . . | 08 . g.51586
GCTGGCCTGAGCTTCTTCACCTATGAGACGCTCAAGAGCTTGCACAGAG | AGTACAGCGGC c.660
A G L S F F T Y E T L K S L H R E | Y S G p.220
. . . . . . g.51646
CGCCGGCAGCCCTACCCCTTCGAGCGCATGATCTTCGGCGCCTGCGCTGGCCTCATCGGG c.720
R R Q P Y P F E R M I F G A C A G L I G p.240
. . . . . . g.51706
CAGTCGGCCTCGTACCCGCTGGATGTGGTGCGGCGGCGCATGCAGACGGCCGGCGTCACG c.780
Q S A S Y P L D V V R R R M Q T A G V T p.260
. . . . . . g.51766
GGCTACCCGCGCGCCTCCATCGCCCGCACGCTGCGCACCATCGTGCGGGAGGAGGGCGCC c.840
G Y P R A S I A R T L R T I V R E E G A p.280
. . . . . . g.51826
GTGCGCGGCCTCTACAAAGGCTTGAGCATGAACTGGGTCAAGGGTCCCATCGCCGTGGGC c.900
V R G L Y K G L S M N W V K G P I A V G p.300
. . . . . g.51883
ATCAGCTTCACCACCTTCGACCTCATGCAGATCCTGCTGCGGCACCTGCAGAGCTAG c.957
I S F T T F D L M Q I L L R H L Q S X p.318
. . . . . . g.51943
gggaccctgagctgctctcaggacggtggaccggtgacccctttgtattctgggcccatg c.*60
. . . . . . g.52003
gaacggtgggggggtgcgcttgattctacttcaggaggcacatggggcgctttatggaac c.*120
. . . . . . g.52063
gagcaggtgggcctgaggggcctgggctcagagtccacgtccaaacgcaaagctggcagc c.*180
. . . . . . g.52123
cctggaagtgcagtgttggggcgatggtgtggggggtcccgcagctcccctcttccttcc c.*240
. . . . . . g.52183
tctgcagacgctggcgctgtctgccggaggtgttgcccaaaaggccctagtggggcgtgg c.*300
. . . . . . g.52243
tcagctccacctcctgatcctgtgtgtcctccgacatgctgctgattctagtgacccctg c.*360
. . . . . . g.52303
tccccaccaggctcagagccagaccgcgcctggaccttcttgttctgactccacgtgcct c.*420
. . . . . . g.52363
gcccggcctccagggtgcgggggcgcctttcttgcaggcggaccctgcccaggatggggc c.*480
. . . . . . g.52423
cagcctcgtgctcagctttggccacaaatgcagcccctggcccaccccaccctgccggcc c.*540
. . . . . . g.52483
ctgccttctccagtatttcccacatggccacgactcctcagtcactagagcctcctgctg c.*600
. . . . . . g.52543
ggaacagtgtcccccagagcctcatgtctatcctagaccctgcaagcagctgggtcccca c.*660
. . . . . . g.52603
agagtgcatctccccctagagttgcctgcccatgcccacctgctttgtaaccttcccagg c.*720
. . . . . . g.52663
agattcatgcttgctctgcacagcagggctcgaggcccaggccatgacacggaactgcct c.*780
. . . . . . g.52723
caggtttgggtcagacctgcatcctggggcatctgctgaaatgtgagcacacaaaccacc c.*840
. . . . . . g.52783
tcctttggcccagaagccccccaggcctagcatctcagtgccccaaccctctgcccagct c.*900
. . . . . . g.52843
gtggtatccagcaggtccttgggtccccacttgagcaggcacttggctgggatatggagc c.*960
. . . . . . g.52903
aatttaaagcccacaggggttgttcagtttctatgaaatggagcatggggtgcctgctag c.*1020
. . . . . . g.52963
cctcaatcccccgaagtgggagcctcatgatagagtatagcttgggggtgggaggtgagg c.*1080
. . . . . . g.53023
aaaatctgaggtacccaggggaacccccagctaactggtctctcagaggagtcccccagg c.*1140
. . . . . . g.53083
gcccgccagctatcacagggactcagaaacacccatttcctaatgacatggtgagtttct c.*1200
. . . . . . g.53143
tgatttcttttttttgtttgttttgttttggttttcaacttggctgaccccgggtctatg c.*1260
. . . . . . g.53203
atctattcacatcgaacccctgactggtctgcctggtgccagggtgagcgtgaccgtgag c.*1320
. . . . . . g.53263
tgttgctttcgacagctggctcagcacacgctgtgtgaagggatctgagcttgttcatct c.*1380
. . . . . . g.53323
ccagtcgtgacttcatttcccttccttctgtcctcctcctgttcttgccttggacctgca c.*1440
. . . . . . g.53383
ggtgtgcagaccgctctctctgccttccttgcatgtggccaccagccatccctgatcttg c.*1500
. . . . . . g.53443
tccccagaggcccaggcagcctgtgatggctgtgaggggctgtcccactgtgtgggtatc c.*1560
. . . . . . g.53503
ccttacccagcacttaaacttggcaggagaggcagggcaaccctcacagggagatgggag c.*1620
. . . . . . g.53563
ggcacccaactcccacaagcatgcaacagcagtaggaattgggggtctgccccaggtggg c.*1680
. . . . . . g.53623
tgagaccaaatgagtggatttggggccacaggctaggcaggagagacaaggggtaggtgg c.*1740
. . . . . . g.53683
gagggtcccccagtccctgctgaccccagtgtgtctccccggagatggctcctagctgag c.*1800
. . . . . . g.53743
tgggacccggcaggagttggggacagtgctgtcccccacccctgcacacagccaggccct c.*1860
. . . . . . g.53803
caggctctgcggtcactcgcctccctgctggtcactggtcttggtctggagttatatttt c.*1920
. . . . . . g.53863
gatgccatgaagacactgtttatatctaatgtttatatattttaaagatttgtgccaaga c.*1980
. . . . . . g.53923
gagtatatttaataaaaacttaaatgacttcttctcctgctcctggctcttctttggctc c.*2040
. . . . . . g.53983
tgaccgcccccccatcttcccccatgaacccccaaacagggttgaagtgcttttgacaca c.*2100
. . . . . g.54037
tttgtgataaaagttctgaataaaagtcttgaataaagaagtttttaaatgcaa c.*2154
(downstream sequence)
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