Canonical Allele Identifier: CA350057626

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009724T>A (hg19) ; chr2:g.206145000T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206145000T>A , CM000664.2:g.206145000T>A	GRCh38
NC_000002.11:g.207009724T>A , CM000664.1:g.207009724T>A	GRCh37
NC_000002.10:g.206717969T>A	NCBI36
NG_009248.1:g.19464A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.764A>T MANE Select	ENSP00000233190.5:p.Asp255Val
ENST00000233190.10:c.764A>T	ENSP00000233190.5:p.Asp255Val
ENST00000423725.5:c.593A>T	ENSP00000397760.1:p.Asp198Val
ENST00000432169.5:c.431A>T	ENSP00000409689.1:p.Asp144Val
ENST00000440274.5:c.656A>T	ENSP00000409766.1:p.Asp219Val
ENST00000449699.5:c.764A>T	ENSP00000399912.1:p.Asp255Val
ENST00000455934.6:c.806A>T	ENSP00000392709.2:p.Asp269Val
ENST00000457011.5:c.416A>T	ENSP00000400976.1:p.Asp139Val
NM_001199981.1:c.656A>T	NP_001186910.1:p.Asp219Val
NM_001199982.1:c.431A>T	NP_001186911.1:p.Asp144Val
NM_001199983.1:c.593A>T	NP_001186912.1:p.Asp198Val
NM_001199984.1:c.806A>T	NP_001186913.1:p.Asp269Val
NM_005006.6:c.764A>T	NP_004997.4:p.Asp255Val
XM_017004188.2:c.5A>T	XP_016859677.1:p.Asp2Val
NM_001199981.2:c.656A>T	NP_001186910.1:p.Asp219Val
NM_001199982.2:c.431A>T	NP_001186911.1:p.Asp144Val
NM_001199983.2:c.593A>T	NP_001186912.1:p.Asp198Val
NM_005006.7:c.764A>T MANE Select	NP_004997.4:p.Asp255Val
NM_001199984.2:c.806A>T	NP_001186913.1:p.Asp269Val