Canonical Allele Identifier: CA1979721859
Gene: ACTN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560783A= , CM000673.2:g.66560783A= GRCh38
NC_000011.9:g.66328254A= , CM000673.1:g.66328254A= GRCh37
NC_000011.8:g.66084830A= NCBI36
NG_013304.2:g.18864A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1860+28A= MANE Select ENSP00000426797.1:n.1860+28A=
ENST00000502692.5:c.1989+28A= ENSP00000422007.1:n.1989+28A=
ENST00000513398.1:c.1860+28A= ENSP00000426797.1:n.1860+28A=
NM_001104.3:c.1860+28A= NP_001095.2:n.1860+28A=
NM_001258371.2:c.1989+28A= NP_001245300.2:n.1989+28A=
NM_001104.4:c.1860+28A= MANE Select NP_001095.2:n.1860+28A=
NM_001258371.3:c.1989+28A= NP_001245300.2:n.1989+28A=