Canonical Allele Identifier: CA2070361

Gene: NDUFS1

Linked Data

• dbSNP Id: rs765491409
• ExAC: 2:206992682 C / T
• gnomAD v2: 2-206992682-C-T
• MyVariant Identifiers: chr2:g.206992682C>T (hg19) ; chr2:g.206127958C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127958C>T , CM000664.2:g.206127958C>T	GRCh38
NC_000002.11:g.206992682C>T , CM000664.1:g.206992682C>T	GRCh37
NC_000002.10:g.206700927C>T	NCBI36
NG_009248.1:g.36506G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1723G>A MANE Select	ENSP00000233190.5:p.Val575Ile
ENST00000233190.10:c.1723G>A	ENSP00000233190.5:p.Val575Ile
ENST00000423725.5:c.1552G>A	ENSP00000397760.1:p.Val518Ile
ENST00000432169.5:c.1390G>A	ENSP00000409689.1:p.Val464Ile
ENST00000440274.5:c.1615G>A	ENSP00000409766.1:p.Val539Ile
ENST00000449699.5:c.1723G>A	ENSP00000399912.1:p.Val575Ile
ENST00000455934.6:c.1765G>A	ENSP00000392709.2:p.Val589Ile
ENST00000457011.5:c.1375G>A	ENSP00000400976.1:p.Val459Ile
ENST00000498520.1:n.195G>A
NM_001199981.1:c.1615G>A	NP_001186910.1:p.Val539Ile
NM_001199982.1:c.1390G>A	NP_001186911.1:p.Val464Ile
NM_001199983.1:c.1552G>A	NP_001186912.1:p.Val518Ile
NM_001199984.1:c.1765G>A	NP_001186913.1:p.Val589Ile
NM_005006.6:c.1723G>A	NP_004997.4:p.Val575Ile
XM_017004188.2:c.964G>A	XP_016859677.1:p.Val322Ile
NM_001199981.2:c.1615G>A	NP_001186910.1:p.Val539Ile
NM_001199982.2:c.1390G>A	NP_001186911.1:p.Val464Ile
NM_001199983.2:c.1552G>A	NP_001186912.1:p.Val518Ile
NM_005006.7:c.1723G>A MANE Select	NP_004997.4:p.Val575Ile
NM_001199984.2:c.1765G>A	NP_001186913.1:p.Val589Ile