Canonical Allele Identifier: CA2496479107

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127881C= , CM000664.2:g.206127881C=	GRCh38
NC_000002.11:g.206992605C= , CM000664.1:g.206992605C=	GRCh37
NC_000002.10:g.206700850C=	NCBI36
NG_009248.1:g.36583G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1800G= MANE Select	ENSP00000233190.5:p.Glu600=
ENST00000233190.10:c.1800G=	ENSP00000233190.5:p.Glu600=
ENST00000423725.5:c.1629G=	ENSP00000397760.1:p.Glu543=
ENST00000432169.5:c.1467G=	ENSP00000409689.1:p.Glu489=
ENST00000440274.5:c.1692G=	ENSP00000409766.1:p.Glu564=
ENST00000449699.5:c.1800G=	ENSP00000399912.1:p.Glu600=
ENST00000455934.6:c.1842G=	ENSP00000392709.2:p.Glu614=
ENST00000457011.5:c.1452G=	ENSP00000400976.1:p.Glu484=
ENST00000498520.1:n.272G=
NM_001199981.1:c.1692G=	NP_001186910.1:p.Glu564=
NM_001199982.1:c.1467G=	NP_001186911.1:p.Glu489=
NM_001199983.1:c.1629G=	NP_001186912.1:p.Glu543=
NM_001199984.1:c.1842G=	NP_001186913.1:p.Glu614=
NM_005006.6:c.1800G=	NP_004997.4:p.Glu600=
XM_017004188.2:c.1041G=	XP_016859677.1:p.Glu347=
NM_001199981.2:c.1692G=	NP_001186910.1:p.Glu564=
NM_001199982.2:c.1467G=	NP_001186911.1:p.Glu489=
NM_001199983.2:c.1629G=	NP_001186912.1:p.Glu543=
NM_005006.7:c.1800G= MANE Select	NP_004997.4:p.Glu600=
NM_001199984.2:c.1842G=	NP_001186913.1:p.Glu614=