Canonical Allele Identifier: CA350057398

Gene: NDUFS1

Linked Data

• gnomAD v4: 2-206144961-C-T
• MyVariant Identifiers: chr2:g.207009685C>T (hg19) ; chr2:g.206144961C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144961C>T , CM000664.2:g.206144961C>T	GRCh38
NC_000002.11:g.207009685C>T , CM000664.1:g.207009685C>T	GRCh37
NC_000002.10:g.206717930C>T	NCBI36
NG_009248.1:g.19503G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.803G>A MANE Select	ENSP00000233190.5:p.Gly268Glu
ENST00000233190.10:c.803G>A	ENSP00000233190.5:p.Gly268Glu
ENST00000423725.5:c.632G>A	ENSP00000397760.1:p.Gly211Glu
ENST00000432169.5:c.470G>A	ENSP00000409689.1:p.Gly157Glu
ENST00000440274.5:c.695G>A	ENSP00000409766.1:p.Gly232Glu
ENST00000449699.5:c.803G>A	ENSP00000399912.1:p.Gly268Glu
ENST00000455934.6:c.845G>A	ENSP00000392709.2:p.Gly282Glu
ENST00000457011.5:c.455G>A	ENSP00000400976.1:p.Gly152Glu
NM_001199981.1:c.695G>A	NP_001186910.1:p.Gly232Glu
NM_001199982.1:c.470G>A	NP_001186911.1:p.Gly157Glu
NM_001199983.1:c.632G>A	NP_001186912.1:p.Gly211Glu
NM_001199984.1:c.845G>A	NP_001186913.1:p.Gly282Glu
NM_005006.6:c.803G>A	NP_004997.4:p.Gly268Glu
XM_017004188.2:c.44G>A	XP_016859677.1:p.Gly15Glu
NM_001199981.2:c.695G>A	NP_001186910.1:p.Gly232Glu
NM_001199982.2:c.470G>A	NP_001186911.1:p.Gly157Glu
NM_001199983.2:c.632G>A	NP_001186912.1:p.Gly211Glu
NM_005006.7:c.803G>A MANE Select	NP_004997.4:p.Gly268Glu
NM_001199984.2:c.845G>A	NP_001186913.1:p.Gly282Glu