Canonical Allele Identifier: CA2496479113

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127895A= , CM000664.2:g.206127895A=	GRCh38
NC_000002.11:g.206992619A= , CM000664.1:g.206992619A=	GRCh37
NC_000002.10:g.206700864A=	NCBI36
NG_009248.1:g.36569T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1786T= MANE Select	ENSP00000233190.5:p.Tyr596=
ENST00000233190.10:c.1786T=	ENSP00000233190.5:p.Tyr596=
ENST00000423725.5:c.1615T=	ENSP00000397760.1:p.Tyr539=
ENST00000432169.5:c.1453T=	ENSP00000409689.1:p.Tyr485=
ENST00000440274.5:c.1678T=	ENSP00000409766.1:p.Tyr560=
ENST00000449699.5:c.1786T=	ENSP00000399912.1:p.Tyr596=
ENST00000455934.6:c.1828T=	ENSP00000392709.2:p.Tyr610=
ENST00000457011.5:c.1438T=	ENSP00000400976.1:p.Tyr480=
ENST00000498520.1:n.258T=
NM_001199981.1:c.1678T=	NP_001186910.1:p.Tyr560=
NM_001199982.1:c.1453T=	NP_001186911.1:p.Tyr485=
NM_001199983.1:c.1615T=	NP_001186912.1:p.Tyr539=
NM_001199984.1:c.1828T=	NP_001186913.1:p.Tyr610=
NM_005006.6:c.1786T=	NP_004997.4:p.Tyr596=
XM_017004188.2:c.1027T=	XP_016859677.1:p.Tyr343=
NM_001199981.2:c.1678T=	NP_001186910.1:p.Tyr560=
NM_001199982.2:c.1453T=	NP_001186911.1:p.Tyr485=
NM_001199983.2:c.1615T=	NP_001186912.1:p.Tyr539=
NM_005006.7:c.1786T= MANE Select	NP_004997.4:p.Tyr596=
NM_001199984.2:c.1828T=	NP_001186913.1:p.Tyr610=