Canonical Allele Identifier: CA381447289
Gene: ACTN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.66560604C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560604C>G , CM000673.2:g.66560604C>G GRCh38
NG_013304.2:g.18685C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1709C>G MANE Select ENSP00000426797.1:p.Ala570Gly
ENST00000502692.5:c.1838C>G ENSP00000422007.1:p.Ala613Gly
ENST00000513398.1:c.1709C>G ENSP00000426797.1:p.Ala570Gly
NM_001104.3:c.1709C>G NP_001095.2:p.Ala570Gly
NM_001258371.2:c.1838C>G NP_001245300.2:p.Ala613Gly
NM_001104.4:c.1709C>G MANE Select NP_001095.2:p.Ala570Gly
NM_001258371.3:c.1838C>G NP_001245300.2:p.Ala613Gly