Canonical Allele Identifier: CA475494349
Gene: ACTN3 HGNC NCBI

Linked Data

gnomAD v4: 11-66560656-T-G
MyVariant Identifiers: chr11:g.66328127T>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560656T>G , CM000673.2:g.66560656T>G GRCh38
NC_000011.9:g.66328127T>G , CM000673.1:g.66328127T>G GRCh37
NC_000011.8:g.66084703T>G NCBI36
NG_013304.2:g.18737T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1761T>G MANE Select ENSP00000426797.1:p.Gly587=
ENST00000502692.5:c.1890T>G ENSP00000422007.1:p.Gly630=
ENST00000513398.1:c.1761T>G ENSP00000426797.1:p.Gly587=
NM_001104.3:c.1761T>G NP_001095.2:p.Gly587=
NM_001258371.2:c.1890T>G NP_001245300.2:p.Gly630=
NM_001104.4:c.1761T>G MANE Select NP_001095.2:p.Gly587=
NM_001258371.3:c.1890T>G NP_001245300.2:p.Gly630=
Search 100 bp 5'
Search 100 bp 3'