Canonical Allele Identifier: CA381447876
Gene: ACTN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560697G>A , CM000673.2:g.66560697G>A GRCh38
NC_000011.9:g.66328168G>A , CM000673.1:g.66328168G>A GRCh37
NC_000011.8:g.66084744G>A NCBI36
NG_013304.2:g.18778G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1802G>A MANE Select ENSP00000426797.1:p.Cys601Tyr
ENST00000502692.5:c.1931G>A ENSP00000422007.1:p.Cys644Tyr
ENST00000513398.1:c.1802G>A ENSP00000426797.1:p.Cys601Tyr
NM_001104.3:c.1802G>A NP_001095.2:p.Cys601Tyr
NM_001258371.2:c.1931G>A NP_001245300.2:p.Cys644Tyr
NM_001104.4:c.1802G>A MANE Select NP_001095.2:p.Cys601Tyr
NM_001258371.3:c.1931G>A NP_001245300.2:p.Cys644Tyr