Canonical Allele Identifier: CA381447535

Gene: ACTN3

Linked Data

• gnomAD v4: 11-66560645-G-T
• MyVariant Identifiers: chr11:g.66560645G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560645G>T , CM000673.2:g.66560645G>T	GRCh38
NG_013304.2:g.18726G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1750G>T MANE Select	ENSP00000426797.1:p.Gly584Cys
ENST00000502692.5:c.1879G>T	ENSP00000422007.1:p.Gly627Cys
ENST00000513398.1:c.1750G>T	ENSP00000426797.1:p.Gly584Cys
NM_001104.3:c.1750G>T	NP_001095.2:p.Gly584Cys
NM_001258371.2:c.1879G>T	NP_001245300.2:p.Gly627Cys
NM_001104.4:c.1750G>T MANE Select	NP_001095.2:p.Gly584Cys
NM_001258371.3:c.1879G>T	NP_001245300.2:p.Gly627Cys