Canonical Allele Identifier: CA380362090

Gene: NDUFS3

Linked Data

• gnomAD v4: 11-47582463-G-A
• MyVariant Identifiers: chr11:g.47604015G>A (hg19) ; chr11:g.47582463G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582463G>A , CM000673.2:g.47582463G>A	GRCh38
NC_000011.9:g.47604015G>A , CM000673.1:g.47604015G>A	GRCh37
NC_000011.8:g.47560591G>A	NCBI36
NG_011946.1:g.8454G>A
NG_011946.2:g.8454G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.622G>A MANE Select	ENSP00000263774.4:p.Val208Ile
ENST00000531351.2:n.1817G>A
ENST00000677462.1:n.3096G>A
ENST00000678975.1:n.2879G>A
ENST00000263774.8:c.622G>A	ENSP00000263774.4:p.Val208Ile
ENST00000524568.1:n.725G>A
ENST00000525212.1:n.277G>A
ENST00000525378.5:n.560G>A
ENST00000527178.1:n.222G>A
ENST00000533507.5:n.1516G>A
NM_004551.2:c.622G>A	NP_004542.1:p.Val208Ile
NM_004551.3:c.622G>A MANE Select	NP_004542.1:p.Val208Ile