Canonical Allele Identifier: CA224075568
Gene: ACTN3 HGNC NCBI

Linked Data

dbSNP Id: rs991497381
gnomAD v3: 11-66560311-G-A
gnomAD v4: 11-66560311-G-A
MyVariant Identifiers: chr11:g.66327782G>A (hg19) chr11:g.66560311G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560311G>A , CM000673.2:g.66560311G>A GRCh38
NC_000011.9:g.66327782G>A , CM000673.1:g.66327782G>A GRCh37
NC_000011.8:g.66084358G>A NCBI36
NG_013304.2:g.18392G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1677G>A MANE Select ENSP00000426797.1:p.Gln559=
ENST00000502692.5:c.1806G>A ENSP00000422007.1:p.Gln602=
ENST00000513398.1:c.1677G>A ENSP00000426797.1:p.Gln559=
NM_001104.3:c.1677G>A NP_001095.2:p.Gln559=
NM_001258371.2:c.1806G>A NP_001245300.2:p.Gln602=
NM_001104.4:c.1677G>A MANE Select NP_001095.2:p.Gln559=
NM_001258371.3:c.1806G>A NP_001245300.2:p.Gln602=
Search 100 bp 5'
Search 100 bp 3'