Canonical Allele Identifier: CA430953194

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009702C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144978C>G , CM000664.2:g.206144978C>G	GRCh38
NC_000002.11:g.207009702C>G , CM000664.1:g.207009702C>G	GRCh37
NC_000002.10:g.206717947C>G	NCBI36
NG_009248.1:g.19486G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.786G>C MANE Select	ENSP00000233190.5:p.Val262=
ENST00000233190.10:c.786G>C	ENSP00000233190.5:p.Val262=
ENST00000423725.5:c.615G>C	ENSP00000397760.1:p.Val205=
ENST00000432169.5:c.453G>C	ENSP00000409689.1:p.Val151=
ENST00000440274.5:c.678G>C	ENSP00000409766.1:p.Val226=
ENST00000449699.5:c.786G>C	ENSP00000399912.1:p.Val262=
ENST00000455934.6:c.828G>C	ENSP00000392709.2:p.Val276=
ENST00000457011.5:c.438G>C	ENSP00000400976.1:p.Val146=
NM_001199981.1:c.678G>C	NP_001186910.1:p.Val226=
NM_001199982.1:c.453G>C	NP_001186911.1:p.Val151=
NM_001199983.1:c.615G>C	NP_001186912.1:p.Val205=
NM_001199984.1:c.828G>C	NP_001186913.1:p.Val276=
NM_005006.6:c.786G>C	NP_004997.4:p.Val262=
XM_017004188.2:c.27G>C	XP_016859677.1:p.Val9=
NM_001199981.2:c.678G>C	NP_001186910.1:p.Val226=
NM_001199982.2:c.453G>C	NP_001186911.1:p.Val151=
NM_001199983.2:c.615G>C	NP_001186912.1:p.Val205=
NM_005006.7:c.786G>C MANE Select	NP_004997.4:p.Val262=
NM_001199984.2:c.828G>C	NP_001186913.1:p.Val276=