Canonical Allele Identifier: CA350057827

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009750T>G (hg19) ; chr2:g.206145026T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206145026T>G , CM000664.2:g.206145026T>G	GRCh38
NC_000002.11:g.207009750T>G , CM000664.1:g.207009750T>G	GRCh37
NC_000002.10:g.206717995T>G	NCBI36
NG_009248.1:g.19438A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.738A>C MANE Select	ENSP00000233190.5:p.Arg246Ser
ENST00000233190.10:c.738A>C	ENSP00000233190.5:p.Arg246Ser
ENST00000423725.5:c.567A>C	ENSP00000397760.1:p.Arg189Ser
ENST00000432169.5:c.405A>C	ENSP00000409689.1:p.Arg135Ser
ENST00000440274.5:c.630A>C	ENSP00000409766.1:p.Arg210Ser
ENST00000449699.5:c.738A>C	ENSP00000399912.1:p.Arg246Ser
ENST00000455934.6:c.780A>C	ENSP00000392709.2:p.Arg260Ser
ENST00000457011.5:c.390A>C	ENSP00000400976.1:p.Arg130Ser
NM_001199981.1:c.630A>C	NP_001186910.1:p.Arg210Ser
NM_001199982.1:c.405A>C	NP_001186911.1:p.Arg135Ser
NM_001199983.1:c.567A>C	NP_001186912.1:p.Arg189Ser
NM_001199984.1:c.780A>C	NP_001186913.1:p.Arg260Ser
NM_005006.6:c.738A>C	NP_004997.4:p.Arg246Ser
XM_017004188.2:c.-22A>C	XP_016859677.1:n.-22A>C
NM_001199981.2:c.630A>C	NP_001186910.1:p.Arg210Ser
NM_001199982.2:c.405A>C	NP_001186911.1:p.Arg135Ser
NM_001199983.2:c.567A>C	NP_001186912.1:p.Arg189Ser
NM_005006.7:c.738A>C MANE Select	NP_004997.4:p.Arg246Ser
NM_001199984.2:c.780A>C	NP_001186913.1:p.Arg260Ser