Canonical Allele Identifier: CA381447471
Gene: ACTN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.66560636G>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560636G>C , CM000673.2:g.66560636G>C GRCh38
NG_013304.2:g.18717G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000513398.2:c.1741G>C MANE Select ENSP00000426797.1:p.Ala581Pro
ENST00000502692.5:c.1870G>C ENSP00000422007.1:p.Ala624Pro
ENST00000513398.1:c.1741G>C ENSP00000426797.1:p.Ala581Pro
NM_001104.3:c.1741G>C NP_001095.2:p.Ala581Pro
NM_001258371.2:c.1870G>C NP_001245300.2:p.Ala624Pro
NM_001104.4:c.1741G>C MANE Select NP_001095.2:p.Ala581Pro
NM_001258371.3:c.1870G>C NP_001245300.2:p.Ala624Pro