Canonical Allele Identifier: CA381446820
Gene: ACTN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560310A>G , CM000673.2:g.66560310A>G GRCh38
NC_000011.9:g.66327781A>G , CM000673.1:g.66327781A>G GRCh37
NC_000011.8:g.66084357A>G NCBI36
NG_013304.2:g.18391A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1676A>G MANE Select ENSP00000426797.1:p.Gln559Arg
ENST00000502692.5:c.1805A>G ENSP00000422007.1:p.Gln602Arg
ENST00000513398.1:c.1676A>G ENSP00000426797.1:p.Gln559Arg
NM_001104.3:c.1676A>G NP_001095.2:p.Gln559Arg
NM_001258371.2:c.1805A>G NP_001245300.2:p.Gln602Arg
NM_001104.4:c.1676A>G MANE Select NP_001095.2:p.Gln559Arg
NM_001258371.3:c.1805A>G NP_001245300.2:p.Gln602Arg