Canonical Allele Identifier: CA430943546

Gene: NDUFS1

Linked Data

• gnomAD v4: 2-206127956-A-G
• MyVariant Identifiers: chr2:g.206992680A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127956A>G , CM000664.2:g.206127956A>G	GRCh38
NC_000002.11:g.206992680A>G , CM000664.1:g.206992680A>G	GRCh37
NC_000002.10:g.206700925A>G	NCBI36
NG_009248.1:g.36508T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1725T>C MANE Select	ENSP00000233190.5:p.Val575=
ENST00000233190.10:c.1725T>C	ENSP00000233190.5:p.Val575=
ENST00000423725.5:c.1554T>C	ENSP00000397760.1:p.Val518=
ENST00000432169.5:c.1392T>C	ENSP00000409689.1:p.Val464=
ENST00000440274.5:c.1617T>C	ENSP00000409766.1:p.Val539=
ENST00000449699.5:c.1725T>C	ENSP00000399912.1:p.Val575=
ENST00000455934.6:c.1767T>C	ENSP00000392709.2:p.Val589=
ENST00000457011.5:c.1377T>C	ENSP00000400976.1:p.Val459=
ENST00000498520.1:n.197T>C
NM_001199981.1:c.1617T>C	NP_001186910.1:p.Val539=
NM_001199982.1:c.1392T>C	NP_001186911.1:p.Val464=
NM_001199983.1:c.1554T>C	NP_001186912.1:p.Val518=
NM_001199984.1:c.1767T>C	NP_001186913.1:p.Val589=
NM_005006.6:c.1725T>C	NP_004997.4:p.Val575=
XM_017004188.2:c.966T>C	XP_016859677.1:p.Val322=
NM_001199981.2:c.1617T>C	NP_001186910.1:p.Val539=
NM_001199982.2:c.1392T>C	NP_001186911.1:p.Val464=
NM_001199983.2:c.1554T>C	NP_001186912.1:p.Val518=
NM_005006.7:c.1725T>C MANE Select	NP_004997.4:p.Val575=
NM_001199984.2:c.1767T>C	NP_001186913.1:p.Val589=