Canonical Allele Identifier: CA323085
Gene: NDUFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 214784
ClinVar RCV Id: RCV000198567
dbSNP Id: rs863224103
MyVariant Identifiers: chr2:g.206992678C>T (hg19) chr2:g.206127954C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206127954C>T , CM000664.2:g.206127954C>T GRCh38
NC_000002.11:g.206992678C>T , CM000664.1:g.206992678C>T GRCh37
NC_000002.10:g.206700923C>T NCBI36
NG_009248.1:g.36510G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000233190.11:c.1727G>A MANE Select ENSP00000233190.5:p.Gly576Glu
ENST00000233190.10:c.1727G>A ENSP00000233190.5:p.Gly576Glu
ENST00000423725.5:c.1556G>A ENSP00000397760.1:p.Gly519Glu
ENST00000432169.5:c.1394G>A ENSP00000409689.1:p.Gly465Glu
ENST00000440274.5:c.1619G>A ENSP00000409766.1:p.Gly540Glu
ENST00000449699.5:c.1727G>A ENSP00000399912.1:p.Gly576Glu
ENST00000455934.6:c.1769G>A ENSP00000392709.2:p.Gly590Glu
ENST00000457011.5:c.1379G>A ENSP00000400976.1:p.Gly460Glu
ENST00000498520.1:n.199G>A
NM_001199981.1:c.1619G>A NP_001186910.1:p.Gly540Glu
NM_001199982.1:c.1394G>A NP_001186911.1:p.Gly465Glu
NM_001199983.1:c.1556G>A NP_001186912.1:p.Gly519Glu
NM_001199984.1:c.1769G>A NP_001186913.1:p.Gly590Glu
NM_005006.6:c.1727G>A NP_004997.4:p.Gly576Glu
XM_017004188.2:c.968G>A XP_016859677.1:p.Gly323Glu
NM_001199981.2:c.1619G>A NP_001186910.1:p.Gly540Glu
NM_001199982.2:c.1394G>A NP_001186911.1:p.Gly465Glu
NM_001199983.2:c.1556G>A NP_001186912.1:p.Gly519Glu
NM_005006.7:c.1727G>A MANE Select NP_004997.4:p.Gly576Glu
NM_001199984.2:c.1769G>A NP_001186913.1:p.Gly590Glu
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