Canonical Allele Identifier: CA350057672

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009730A>T (hg19) ; chr2:g.206145006A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206145006A>T , CM000664.2:g.206145006A>T	GRCh38
NC_000002.11:g.207009730A>T , CM000664.1:g.207009730A>T	GRCh37
NC_000002.10:g.206717975A>T	NCBI36
NG_009248.1:g.19458T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.758T>A MANE Select	ENSP00000233190.5:p.Val253Glu
ENST00000233190.10:c.758T>A	ENSP00000233190.5:p.Val253Glu
ENST00000423725.5:c.587T>A	ENSP00000397760.1:p.Val196Glu
ENST00000432169.5:c.425T>A	ENSP00000409689.1:p.Val142Glu
ENST00000440274.5:c.650T>A	ENSP00000409766.1:p.Val217Glu
ENST00000449699.5:c.758T>A	ENSP00000399912.1:p.Val253Glu
ENST00000455934.6:c.800T>A	ENSP00000392709.2:p.Val267Glu
ENST00000457011.5:c.410T>A	ENSP00000400976.1:p.Val137Glu
NM_001199981.1:c.650T>A	NP_001186910.1:p.Val217Glu
NM_001199982.1:c.425T>A	NP_001186911.1:p.Val142Glu
NM_001199983.1:c.587T>A	NP_001186912.1:p.Val196Glu
NM_001199984.1:c.800T>A	NP_001186913.1:p.Val267Glu
NM_005006.6:c.758T>A	NP_004997.4:p.Val253Glu
XM_017004188.2:c.-2T>A	XP_016859677.1:n.-2T>A
NM_001199981.2:c.650T>A	NP_001186910.1:p.Val217Glu
NM_001199982.2:c.425T>A	NP_001186911.1:p.Val142Glu
NM_001199983.2:c.587T>A	NP_001186912.1:p.Val196Glu
NM_005006.7:c.758T>A MANE Select	NP_004997.4:p.Val253Glu
NM_001199984.2:c.800T>A	NP_001186913.1:p.Val267Glu