Canonical Allele Identifier: CA381447500
Gene: ACTN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.66560641C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560641C>G , CM000673.2:g.66560641C>G GRCh38
NG_013304.2:g.18722C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1746C>G MANE Select ENSP00000426797.1:p.Ile582Met
ENST00000502692.5:c.1875C>G ENSP00000422007.1:p.Ile625Met
ENST00000513398.1:c.1746C>G ENSP00000426797.1:p.Ile582Met
NM_001104.3:c.1746C>G NP_001095.2:p.Ile582Met
NM_001258371.2:c.1875C>G NP_001245300.2:p.Ile625Met
NM_001104.4:c.1746C>G MANE Select NP_001095.2:p.Ile582Met
NM_001258371.3:c.1875C>G NP_001245300.2:p.Ile625Met