Canonical Allele Identifier: CA380362096

Gene: NDUFS3

Linked Data

• gnomAD v4: 11-47582464-T-A
• MyVariant Identifiers: chr11:g.47604016T>A (hg19) ; chr11:g.47582464T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582464T>A , CM000673.2:g.47582464T>A	GRCh38
NC_000011.9:g.47604016T>A , CM000673.1:g.47604016T>A	GRCh37
NC_000011.8:g.47560592T>A	NCBI36
NG_011946.1:g.8455T>A
NG_011946.2:g.8455T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.623T>A MANE Select	ENSP00000263774.4:p.Val208Asp
ENST00000531351.2:n.1818T>A
ENST00000677462.1:n.3097T>A
ENST00000678975.1:n.2880T>A
ENST00000263774.8:c.623T>A	ENSP00000263774.4:p.Val208Asp
ENST00000524568.1:n.726T>A
ENST00000525212.1:n.278T>A
ENST00000525378.5:n.561T>A
ENST00000527178.1:n.223T>A
ENST00000533507.5:n.1517T>A
NM_004551.2:c.623T>A	NP_004542.1:p.Val208Asp
NM_004551.3:c.623T>A MANE Select	NP_004542.1:p.Val208Asp