Canonical Allele Identifier: CA381446619
Gene: ACTN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.66327757T>A (hg19) chr11:g.66560286T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560286T>A , CM000673.2:g.66560286T>A GRCh38
NC_000011.9:g.66327757T>A , CM000673.1:g.66327757T>A GRCh37
NC_000011.8:g.66084333T>A NCBI36
NG_013304.2:g.18367T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1652T>A MANE Select ENSP00000426797.1:p.Leu551Gln
ENST00000502692.5:c.1781T>A ENSP00000422007.1:p.Leu594Gln
ENST00000513398.1:c.1652T>A ENSP00000426797.1:p.Leu551Gln
NM_001104.3:c.1652T>A NP_001095.2:p.Leu551Gln
NM_001258371.2:c.1781T>A NP_001245300.2:p.Leu594Gln
NM_001104.4:c.1652T>A MANE Select NP_001095.2:p.Leu551Gln
NM_001258371.3:c.1781T>A NP_001245300.2:p.Leu594Gln
Search 100 bp 5'
Search 100 bp 3'