Canonical Allele Identifier: CA350043807

Gene: NDUFS1

Linked Data

• gnomAD v4: 2-206127957-A-G
• MyVariant Identifiers: chr2:g.206992681A>G (hg19) ; chr2:g.206127957A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127957A>G , CM000664.2:g.206127957A>G	GRCh38
NC_000002.11:g.206992681A>G , CM000664.1:g.206992681A>G	GRCh37
NC_000002.10:g.206700926A>G	NCBI36
NG_009248.1:g.36507T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1724T>C MANE Select	ENSP00000233190.5:p.Val575Ala
ENST00000233190.10:c.1724T>C	ENSP00000233190.5:p.Val575Ala
ENST00000423725.5:c.1553T>C	ENSP00000397760.1:p.Val518Ala
ENST00000432169.5:c.1391T>C	ENSP00000409689.1:p.Val464Ala
ENST00000440274.5:c.1616T>C	ENSP00000409766.1:p.Val539Ala
ENST00000449699.5:c.1724T>C	ENSP00000399912.1:p.Val575Ala
ENST00000455934.6:c.1766T>C	ENSP00000392709.2:p.Val589Ala
ENST00000457011.5:c.1376T>C	ENSP00000400976.1:p.Val459Ala
ENST00000498520.1:n.196T>C
NM_001199981.1:c.1616T>C	NP_001186910.1:p.Val539Ala
NM_001199982.1:c.1391T>C	NP_001186911.1:p.Val464Ala
NM_001199983.1:c.1553T>C	NP_001186912.1:p.Val518Ala
NM_001199984.1:c.1766T>C	NP_001186913.1:p.Val589Ala
NM_005006.6:c.1724T>C	NP_004997.4:p.Val575Ala
XM_017004188.2:c.965T>C	XP_016859677.1:p.Val322Ala
NM_001199981.2:c.1616T>C	NP_001186910.1:p.Val539Ala
NM_001199982.2:c.1391T>C	NP_001186911.1:p.Val464Ala
NM_001199983.2:c.1553T>C	NP_001186912.1:p.Val518Ala
NM_005006.7:c.1724T>C MANE Select	NP_004997.4:p.Val575Ala
NM_001199984.2:c.1766T>C	NP_001186913.1:p.Val589Ala