Canonical Allele Identifier: CA2070659

Gene: NDUFS1

Linked Data

• dbSNP Id: rs781515471
• ExAC: 2:207009728 T / C
• gnomAD v2: 2-207009728-T-C
• gnomAD v4: 2-206145004-T-C
• MyVariant Identifiers: chr2:g.207009728T>C (hg19) ; chr2:g.206145004T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206145004T>C , CM000664.2:g.206145004T>C	GRCh38
NC_000002.11:g.207009728T>C , CM000664.1:g.207009728T>C	GRCh37
NC_000002.10:g.206717973T>C	NCBI36
NG_009248.1:g.19460A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.760A>G MANE Select	ENSP00000233190.5:p.Met254Val
ENST00000233190.10:c.760A>G	ENSP00000233190.5:p.Met254Val
ENST00000423725.5:c.589A>G	ENSP00000397760.1:p.Met197Val
ENST00000432169.5:c.427A>G	ENSP00000409689.1:p.Met143Val
ENST00000440274.5:c.652A>G	ENSP00000409766.1:p.Met218Val
ENST00000449699.5:c.760A>G	ENSP00000399912.1:p.Met254Val
ENST00000455934.6:c.802A>G	ENSP00000392709.2:p.Met268Val
ENST00000457011.5:c.412A>G	ENSP00000400976.1:p.Met138Val
NM_001199981.1:c.652A>G	NP_001186910.1:p.Met218Val
NM_001199982.1:c.427A>G	NP_001186911.1:p.Met143Val
NM_001199983.1:c.589A>G	NP_001186912.1:p.Met197Val
NM_001199984.1:c.802A>G	NP_001186913.1:p.Met268Val
NM_005006.6:c.760A>G	NP_004997.4:p.Met254Val
XM_017004188.2:c.1A>G	XP_016859677.1:p.Met1Val
NM_001199981.2:c.652A>G	NP_001186910.1:p.Met218Val
NM_001199982.2:c.427A>G	NP_001186911.1:p.Met143Val
NM_001199983.2:c.589A>G	NP_001186912.1:p.Met197Val
NM_005006.7:c.760A>G MANE Select	NP_004997.4:p.Met254Val
NM_001199984.2:c.802A>G	NP_001186913.1:p.Met268Val