Canonical Allele Identifier: CA350057175

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009656G>C (hg19) ; chr2:g.206144932G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144932G>C , CM000664.2:g.206144932G>C	GRCh38
NC_000002.11:g.207009656G>C , CM000664.1:g.207009656G>C	GRCh37
NC_000002.10:g.206717901G>C	NCBI36
NG_009248.1:g.19532C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000233190.11:c.832C>G MANE Select	ENSP00000233190.5:p.His278Asp
ENST00000233190.10:c.832C>G	ENSP00000233190.5:p.His278Asp
ENST00000423725.5:c.661C>G	ENSP00000397760.1:p.His221Asp
ENST00000432169.5:c.499C>G	ENSP00000409689.1:p.His167Asp
ENST00000440274.5:c.724C>G	ENSP00000409766.1:p.His242Asp
ENST00000449699.5:c.832C>G	ENSP00000399912.1:p.His278Asp
ENST00000455934.6:c.874C>G	ENSP00000392709.2:p.His292Asp
ENST00000457011.5:c.484C>G	ENSP00000400976.1:p.His162Asp
NM_001199981.1:c.724C>G	NP_001186910.1:p.His242Asp
NM_001199982.1:c.499C>G	NP_001186911.1:p.His167Asp
NM_001199983.1:c.661C>G	NP_001186912.1:p.His221Asp
NM_001199984.1:c.874C>G	NP_001186913.1:p.His292Asp
NM_005006.6:c.832C>G	NP_004997.4:p.His278Asp
XM_017004188.2:c.73C>G	XP_016859677.1:p.His25Asp
NM_001199981.2:c.724C>G	NP_001186910.1:p.His242Asp
NM_001199982.2:c.499C>G	NP_001186911.1:p.His167Asp
NM_001199983.2:c.661C>G	NP_001186912.1:p.His221Asp
NM_005006.7:c.832C>G MANE Select	NP_004997.4:p.His278Asp
NM_001199984.2:c.874C>G	NP_001186913.1:p.His292Asp