Canonical Allele Identifier: CA430953012

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1692101500
• gnomAD v3: 2-206144960-T-G
• gnomAD v4: 2-206144960-T-G
• MyVariant Identifiers: chr2:g.207009684T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144960T>G , CM000664.2:g.206144960T>G	GRCh38
NC_000002.11:g.207009684T>G , CM000664.1:g.207009684T>G	GRCh37
NC_000002.10:g.206717929T>G	NCBI36
NG_009248.1:g.19504A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.804A>C MANE Select	ENSP00000233190.5:p.Gly268=
ENST00000233190.10:c.804A>C	ENSP00000233190.5:p.Gly268=
ENST00000423725.5:c.633A>C	ENSP00000397760.1:p.Gly211=
ENST00000432169.5:c.471A>C	ENSP00000409689.1:p.Gly157=
ENST00000440274.5:c.696A>C	ENSP00000409766.1:p.Gly232=
ENST00000449699.5:c.804A>C	ENSP00000399912.1:p.Gly268=
ENST00000455934.6:c.846A>C	ENSP00000392709.2:p.Gly282=
ENST00000457011.5:c.456A>C	ENSP00000400976.1:p.Gly152=
NM_001199981.1:c.696A>C	NP_001186910.1:p.Gly232=
NM_001199982.1:c.471A>C	NP_001186911.1:p.Gly157=
NM_001199983.1:c.633A>C	NP_001186912.1:p.Gly211=
NM_001199984.1:c.846A>C	NP_001186913.1:p.Gly282=
NM_005006.6:c.804A>C	NP_004997.4:p.Gly268=
XM_017004188.2:c.45A>C	XP_016859677.1:p.Gly15=
NM_001199981.2:c.696A>C	NP_001186910.1:p.Gly232=
NM_001199982.2:c.471A>C	NP_001186911.1:p.Gly157=
NM_001199983.2:c.633A>C	NP_001186912.1:p.Gly211=
NM_005006.7:c.804A>C MANE Select	NP_004997.4:p.Gly268=
NM_001199984.2:c.846A>C	NP_001186913.1:p.Gly282=