Canonical Allele Identifier: CA381447547
Gene: ACTN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.66328119A>G (hg19) chr11:g.66560648A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560648A>G , CM000673.2:g.66560648A>G GRCh38
NC_000011.9:g.66328119A>G , CM000673.1:g.66328119A>G GRCh37
NC_000011.8:g.66084695A>G NCBI36
NG_013304.2:g.18729A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1753A>G MANE Select ENSP00000426797.1:p.Ile585Val
ENST00000502692.5:c.1882A>G ENSP00000422007.1:p.Ile628Val
ENST00000513398.1:c.1753A>G ENSP00000426797.1:p.Ile585Val
NM_001104.3:c.1753A>G NP_001095.2:p.Ile585Val
NM_001258371.2:c.1882A>G NP_001245300.2:p.Ile628Val
NM_001104.4:c.1753A>G MANE Select NP_001095.2:p.Ile585Val
NM_001258371.3:c.1882A>G NP_001245300.2:p.Ile628Val
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