Canonical Allele Identifier: CA350057377

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009682T>G (hg19) ; chr2:g.206144958T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144958T>G , CM000664.2:g.206144958T>G	GRCh38
NC_000002.11:g.207009682T>G , CM000664.1:g.207009682T>G	GRCh37
NC_000002.10:g.206717927T>G	NCBI36
NG_009248.1:g.19506A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.806A>C MANE Select	ENSP00000233190.5:p.Glu269Ala
ENST00000233190.10:c.806A>C	ENSP00000233190.5:p.Glu269Ala
ENST00000423725.5:c.635A>C	ENSP00000397760.1:p.Glu212Ala
ENST00000432169.5:c.473A>C	ENSP00000409689.1:p.Glu158Ala
ENST00000440274.5:c.698A>C	ENSP00000409766.1:p.Glu233Ala
ENST00000449699.5:c.806A>C	ENSP00000399912.1:p.Glu269Ala
ENST00000455934.6:c.848A>C	ENSP00000392709.2:p.Glu283Ala
ENST00000457011.5:c.458A>C	ENSP00000400976.1:p.Glu153Ala
NM_001199981.1:c.698A>C	NP_001186910.1:p.Glu233Ala
NM_001199982.1:c.473A>C	NP_001186911.1:p.Glu158Ala
NM_001199983.1:c.635A>C	NP_001186912.1:p.Glu212Ala
NM_001199984.1:c.848A>C	NP_001186913.1:p.Glu283Ala
NM_005006.6:c.806A>C	NP_004997.4:p.Glu269Ala
XM_017004188.2:c.47A>C	XP_016859677.1:p.Glu16Ala
NM_001199981.2:c.698A>C	NP_001186910.1:p.Glu233Ala
NM_001199982.2:c.473A>C	NP_001186911.1:p.Glu158Ala
NM_001199983.2:c.635A>C	NP_001186912.1:p.Glu212Ala
NM_005006.7:c.806A>C MANE Select	NP_004997.4:p.Glu269Ala
NM_001199984.2:c.848A>C	NP_001186913.1:p.Glu283Ala