Canonical Allele Identifier: CA350057170

Gene: NDUFS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.832C>T MANE Select	ENSP00000233190.5:p.His278Tyr
ENST00000233190.10:c.832C>T	ENSP00000233190.5:p.His278Tyr
ENST00000423725.5:c.661C>T	ENSP00000397760.1:p.His221Tyr
ENST00000432169.5:c.499C>T	ENSP00000409689.1:p.His167Tyr
ENST00000440274.5:c.724C>T	ENSP00000409766.1:p.His242Tyr
ENST00000449699.5:c.832C>T	ENSP00000399912.1:p.His278Tyr
ENST00000455934.6:c.874C>T	ENSP00000392709.2:p.His292Tyr
ENST00000457011.5:c.484C>T	ENSP00000400976.1:p.His162Tyr
NM_001199981.1:c.724C>T	NP_001186910.1:p.His242Tyr
NM_001199982.1:c.499C>T	NP_001186911.1:p.His167Tyr
NM_001199983.1:c.661C>T	NP_001186912.1:p.His221Tyr
NM_001199984.1:c.874C>T	NP_001186913.1:p.His292Tyr
NM_005006.6:c.832C>T	NP_004997.4:p.His278Tyr
XM_017004188.2:c.73C>T	XP_016859677.1:p.His25Tyr
NM_001199981.2:c.724C>T	NP_001186910.1:p.His242Tyr
NM_001199982.2:c.499C>T	NP_001186911.1:p.His167Tyr
NM_001199983.2:c.661C>T	NP_001186912.1:p.His221Tyr
NM_005006.7:c.832C>T MANE Select	NP_004997.4:p.His278Tyr
NM_001199984.2:c.874C>T	NP_001186913.1:p.His292Tyr