Canonical Allele Identifier: CA381447538
Gene: ACTN3 HGNC NCBI

Linked Data

dbSNP Id: rs1857735101
MyVariant Identifiers: chr11:g.66560646G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560646G>A , CM000673.2:g.66560646G>A GRCh38
NG_013304.2:g.18727G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1751G>A MANE Select ENSP00000426797.1:p.Gly584Asp
ENST00000502692.5:c.1880G>A ENSP00000422007.1:p.Gly627Asp
ENST00000513398.1:c.1751G>A ENSP00000426797.1:p.Gly584Asp
NM_001104.3:c.1751G>A NP_001095.2:p.Gly584Asp
NM_001258371.2:c.1880G>A NP_001245300.2:p.Gly627Asp
NM_001104.4:c.1751G>A MANE Select NP_001095.2:p.Gly584Asp
NM_001258371.3:c.1880G>A NP_001245300.2:p.Gly627Asp