Canonical Allele Identifier: CA381447385
Gene: ACTN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.66560619C>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560619C>A , CM000673.2:g.66560619C>A GRCh38
NG_013304.2:g.18700C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1724C>A MANE Select ENSP00000426797.1:p.Ala575Asp
ENST00000502692.5:c.1853C>A ENSP00000422007.1:p.Ala618Asp
ENST00000513398.1:c.1724C>A ENSP00000426797.1:p.Ala575Asp
NM_001104.3:c.1724C>A NP_001095.2:p.Ala575Asp
NM_001258371.2:c.1853C>A NP_001245300.2:p.Ala618Asp
NM_001104.4:c.1724C>A MANE Select NP_001095.2:p.Ala575Asp
NM_001258371.3:c.1853C>A NP_001245300.2:p.Ala618Asp