Canonical Allele Identifier: CA381446686
Gene: ACTN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.66327766C>A (hg19) chr11:g.66560295C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1661C>A MANE Select ENSP00000426797.1:p.Ser554Tyr
ENST00000502692.5:c.1790C>A ENSP00000422007.1:p.Ser597Tyr
ENST00000513398.1:c.1661C>A ENSP00000426797.1:p.Ser554Tyr
NM_001104.3:c.1661C>A NP_001095.2:p.Ser554Tyr
NM_001258371.2:c.1790C>A NP_001245300.2:p.Ser597Tyr
NM_001104.4:c.1661C>A MANE Select NP_001095.2:p.Ser554Tyr
NM_001258371.3:c.1790C>A NP_001245300.2:p.Ser597Tyr
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