Canonical Allele Identifier: CA350057146

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009653C>T (hg19) ; chr2:g.206144929C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144929C>T , CM000664.2:g.206144929C>T	GRCh38
NC_000002.11:g.207009653C>T , CM000664.1:g.207009653C>T	GRCh37
NC_000002.10:g.206717898C>T	NCBI36
NG_009248.1:g.19535G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000233190.11:c.835G>A MANE Select	ENSP00000233190.5:p.Glu279Lys
ENST00000233190.10:c.835G>A	ENSP00000233190.5:p.Glu279Lys
ENST00000423725.5:c.664G>A	ENSP00000397760.1:p.Glu222Lys
ENST00000432169.5:c.502G>A	ENSP00000409689.1:p.Glu168Lys
ENST00000440274.5:c.727G>A	ENSP00000409766.1:p.Glu243Lys
ENST00000449699.5:c.835G>A	ENSP00000399912.1:p.Glu279Lys
ENST00000455934.6:c.877G>A	ENSP00000392709.2:p.Glu293Lys
ENST00000457011.5:c.487G>A	ENSP00000400976.1:p.Glu163Lys
NM_001199981.1:c.727G>A	NP_001186910.1:p.Glu243Lys
NM_001199982.1:c.502G>A	NP_001186911.1:p.Glu168Lys
NM_001199983.1:c.664G>A	NP_001186912.1:p.Glu222Lys
NM_001199984.1:c.877G>A	NP_001186913.1:p.Glu293Lys
NM_005006.6:c.835G>A	NP_004997.4:p.Glu279Lys
XM_017004188.2:c.76G>A	XP_016859677.1:p.Glu26Lys
NM_001199981.2:c.727G>A	NP_001186910.1:p.Glu243Lys
NM_001199982.2:c.502G>A	NP_001186911.1:p.Glu168Lys
NM_001199983.2:c.664G>A	NP_001186912.1:p.Glu222Lys
NM_005006.7:c.835G>A MANE Select	NP_004997.4:p.Glu279Lys
NM_001199984.2:c.877G>A	NP_001186913.1:p.Glu293Lys