Canonical Allele Identifier: CA381447540
Gene: ACTN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.66560646G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560646G>C , CM000673.2:g.66560646G>C GRCh38
NG_013304.2:g.18727G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1751G>C MANE Select ENSP00000426797.1:p.Gly584Ala
ENST00000502692.5:c.1880G>C ENSP00000422007.1:p.Gly627Ala
ENST00000513398.1:c.1751G>C ENSP00000426797.1:p.Gly584Ala
NM_001104.3:c.1751G>C NP_001095.2:p.Gly584Ala
NM_001258371.2:c.1880G>C NP_001245300.2:p.Gly627Ala
NM_001104.4:c.1751G>C MANE Select NP_001095.2:p.Gly584Ala
NM_001258371.3:c.1880G>C NP_001245300.2:p.Gly627Ala
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