Canonical Allele Identifier: CA2496487416

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206145019C= , CM000664.2:g.206145019C=	GRCh38
NC_000002.11:g.207009743C= , CM000664.1:g.207009743C=	GRCh37
NC_000002.10:g.206717988C=	NCBI36
NG_009248.1:g.19445G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.745G= MANE Select	ENSP00000233190.5:p.Glu249=
ENST00000233190.10:c.745G=	ENSP00000233190.5:p.Glu249=
ENST00000423725.5:c.574G=	ENSP00000397760.1:p.Glu192=
ENST00000432169.5:c.412G=	ENSP00000409689.1:p.Glu138=
ENST00000440274.5:c.637G=	ENSP00000409766.1:p.Glu213=
ENST00000449699.5:c.745G=	ENSP00000399912.1:p.Glu249=
ENST00000455934.6:c.787G=	ENSP00000392709.2:p.Glu263=
ENST00000457011.5:c.397G=	ENSP00000400976.1:p.Glu133=
NM_001199981.1:c.637G=	NP_001186910.1:p.Glu213=
NM_001199982.1:c.412G=	NP_001186911.1:p.Glu138=
NM_001199983.1:c.574G=	NP_001186912.1:p.Glu192=
NM_001199984.1:c.787G=	NP_001186913.1:p.Glu263=
NM_005006.6:c.745G=	NP_004997.4:p.Glu249=
XM_017004188.2:c.-15G=	XP_016859677.1:n.-15G=
NM_001199981.2:c.637G=	NP_001186910.1:p.Glu213=
NM_001199982.2:c.412G=	NP_001186911.1:p.Glu138=
NM_001199983.2:c.574G=	NP_001186912.1:p.Glu192=
NM_005006.7:c.745G= MANE Select	NP_004997.4:p.Glu249=
NM_001199984.2:c.787G=	NP_001186913.1:p.Glu263=