Canonical Allele Identifier: CA474432104

Gene: NDUFS3

Linked Data

• dbSNP Id: rs1219298259
• gnomAD v3: 11-47582135-G-A
• gnomAD v4: 11-47582135-G-A
• MyVariant Identifiers: chr11:g.47603687G>A (hg19) ; chr11:g.47582135G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582135G>A , CM000673.2:g.47582135G>A	GRCh38
NC_000011.9:g.47603687G>A , CM000673.1:g.47603687G>A	GRCh37
NC_000011.8:g.47560263G>A	NCBI36
NG_011946.1:g.8126G>A
NG_011946.2:g.8126G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263774.9:c.429G>A MANE Select	ENSP00000263774.4:p.Val143=
ENST00000531351.2:n.1489G>A
ENST00000677462.1:n.2903G>A
ENST00000678975.1:n.2686G>A
ENST00000263774.8:c.429G>A	ENSP00000263774.4:p.Val143=
ENST00000524568.1:n.532G>A
ENST00000525212.1:n.84G>A
ENST00000525378.5:n.367G>A
ENST00000533507.5:n.1323G>A
NM_004551.2:c.429G>A	NP_004542.1:p.Val143=
NM_004551.3:c.429G>A MANE Select	NP_004542.1:p.Val143=