Canonical Allele Identifier: CA350057131

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009652T>C (hg19) ; chr2:g.206144928T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144928T>C , CM000664.2:g.206144928T>C	GRCh38
NC_000002.11:g.207009652T>C , CM000664.1:g.207009652T>C	GRCh37
NC_000002.10:g.206717897T>C	NCBI36
NG_009248.1:g.19536A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.836A>G MANE Select	ENSP00000233190.5:p.Glu279Gly
ENST00000233190.10:c.836A>G	ENSP00000233190.5:p.Glu279Gly
ENST00000423725.5:c.665A>G	ENSP00000397760.1:p.Glu222Gly
ENST00000432169.5:c.503A>G	ENSP00000409689.1:p.Glu168Gly
ENST00000440274.5:c.728A>G	ENSP00000409766.1:p.Glu243Gly
ENST00000449699.5:c.836A>G	ENSP00000399912.1:p.Glu279Gly
ENST00000455934.6:c.878A>G	ENSP00000392709.2:p.Glu293Gly
ENST00000457011.5:c.488A>G	ENSP00000400976.1:p.Glu163Gly
NM_001199981.1:c.728A>G	NP_001186910.1:p.Glu243Gly
NM_001199982.1:c.503A>G	NP_001186911.1:p.Glu168Gly
NM_001199983.1:c.665A>G	NP_001186912.1:p.Glu222Gly
NM_001199984.1:c.878A>G	NP_001186913.1:p.Glu293Gly
NM_005006.6:c.836A>G	NP_004997.4:p.Glu279Gly
XM_017004188.2:c.77A>G	XP_016859677.1:p.Glu26Gly
NM_001199981.2:c.728A>G	NP_001186910.1:p.Glu243Gly
NM_001199982.2:c.503A>G	NP_001186911.1:p.Glu168Gly
NM_001199983.2:c.665A>G	NP_001186912.1:p.Glu222Gly
NM_005006.7:c.836A>G MANE Select	NP_004997.4:p.Glu279Gly
NM_001199984.2:c.878A>G	NP_001186913.1:p.Glu293Gly