Canonical Allele Identifier: CA381447445
Gene: ACTN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.66560631G>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560631G>T , CM000673.2:g.66560631G>T GRCh38
NG_013304.2:g.18712G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1736G>T MANE Select ENSP00000426797.1:p.Arg579Leu
ENST00000502692.5:c.1865G>T ENSP00000422007.1:p.Arg622Leu
ENST00000513398.1:c.1736G>T ENSP00000426797.1:p.Arg579Leu
NM_001104.3:c.1736G>T NP_001095.2:p.Arg579Leu
NM_001258371.2:c.1865G>T NP_001245300.2:p.Arg622Leu
NM_001104.4:c.1736G>T MANE Select NP_001095.2:p.Arg579Leu
NM_001258371.3:c.1865G>T NP_001245300.2:p.Arg622Leu