Canonical Allele Identifier: CA350057579

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1481964140
• gnomAD v2: 2-207009715-C-T
• gnomAD v3: 2-206144991-C-T
• gnomAD v4: 2-206144991-C-T
• MyVariant Identifiers: chr2:g.207009715C>T (hg19) ; chr2:g.206144991C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144991C>T , CM000664.2:g.206144991C>T	GRCh38
NC_000002.11:g.207009715C>T , CM000664.1:g.207009715C>T	GRCh37
NC_000002.10:g.206717960C>T	NCBI36
NG_009248.1:g.19473G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.773G>A MANE Select	ENSP00000233190.5:p.Gly258Glu
ENST00000233190.10:c.773G>A	ENSP00000233190.5:p.Gly258Glu
ENST00000423725.5:c.602G>A	ENSP00000397760.1:p.Gly201Glu
ENST00000432169.5:c.440G>A	ENSP00000409689.1:p.Gly147Glu
ENST00000440274.5:c.665G>A	ENSP00000409766.1:p.Gly222Glu
ENST00000449699.5:c.773G>A	ENSP00000399912.1:p.Gly258Glu
ENST00000455934.6:c.815G>A	ENSP00000392709.2:p.Gly272Glu
ENST00000457011.5:c.425G>A	ENSP00000400976.1:p.Gly142Glu
NM_001199981.1:c.665G>A	NP_001186910.1:p.Gly222Glu
NM_001199982.1:c.440G>A	NP_001186911.1:p.Gly147Glu
NM_001199983.1:c.602G>A	NP_001186912.1:p.Gly201Glu
NM_001199984.1:c.815G>A	NP_001186913.1:p.Gly272Glu
NM_005006.6:c.773G>A	NP_004997.4:p.Gly258Glu
XM_017004188.2:c.14G>A	XP_016859677.1:p.Gly5Glu
NM_001199981.2:c.665G>A	NP_001186910.1:p.Gly222Glu
NM_001199982.2:c.440G>A	NP_001186911.1:p.Gly147Glu
NM_001199983.2:c.602G>A	NP_001186912.1:p.Gly201Glu
NM_005006.7:c.773G>A MANE Select	NP_004997.4:p.Gly258Glu
NM_001199984.2:c.815G>A	NP_001186913.1:p.Gly272Glu