Canonical Allele Identifier: CA381446792
Gene: ACTN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560307C>A , CM000673.2:g.66560307C>A GRCh38
NC_000011.9:g.66327778C>A , CM000673.1:g.66327778C>A GRCh37
NC_000011.8:g.66084354C>A NCBI36
NG_013304.2:g.18388C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1673C>A MANE Select ENSP00000426797.1:p.Thr558Asn
ENST00000502692.5:c.1802C>A ENSP00000422007.1:p.Thr601Asn
ENST00000513398.1:c.1673C>A ENSP00000426797.1:p.Thr558Asn
NM_001104.3:c.1673C>A NP_001095.2:p.Thr558Asn
NM_001258371.2:c.1802C>A NP_001245300.2:p.Thr601Asn
NM_001104.4:c.1673C>A MANE Select NP_001095.2:p.Thr558Asn
NM_001258371.3:c.1802C>A NP_001245300.2:p.Thr601Asn