Canonical Allele Identifier: CA381446687
Gene: ACTN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560295C>G , CM000673.2:g.66560295C>G GRCh38
NC_000011.9:g.66327766C>G , CM000673.1:g.66327766C>G GRCh37
NC_000011.8:g.66084342C>G NCBI36
NG_013304.2:g.18376C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1661C>G MANE Select ENSP00000426797.1:p.Ser554Cys
ENST00000502692.5:c.1790C>G ENSP00000422007.1:p.Ser597Cys
ENST00000513398.1:c.1661C>G ENSP00000426797.1:p.Ser554Cys
NM_001104.3:c.1661C>G NP_001095.2:p.Ser554Cys
NM_001258371.2:c.1790C>G NP_001245300.2:p.Ser597Cys
NM_001104.4:c.1661C>G MANE Select NP_001095.2:p.Ser554Cys
NM_001258371.3:c.1790C>G NP_001245300.2:p.Ser597Cys