Canonical Allele Identifier: CA475493811

Gene: ACTN3

Linked Data

• dbSNP Id: rs1590811032
• gnomAD v4: 11-66560290-A-G
• MyVariant Identifiers: chr11:g.66327761A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560290A>G , CM000673.2:g.66560290A>G	GRCh38
NC_000011.9:g.66327761A>G , CM000673.1:g.66327761A>G	GRCh37
NC_000011.8:g.66084337A>G	NCBI36
NG_013304.2:g.18371A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1656A>G MANE Select	ENSP00000426797.1:p.Val552=
ENST00000502692.5:c.1785A>G	ENSP00000422007.1:p.Val595=
ENST00000513398.1:c.1656A>G	ENSP00000426797.1:p.Val552=
NM_001104.3:c.1656A>G	NP_001095.2:p.Val552=
NM_001258371.2:c.1785A>G	NP_001245300.2:p.Val595=
NM_001104.4:c.1656A>G MANE Select	NP_001095.2:p.Val552=
NM_001258371.3:c.1785A>G	NP_001245300.2:p.Val595=