Canonical Allele Identifier: CA381447520
Gene: ACTN3 HGNC NCBI

Linked Data

dbSNP Id: rs1857734709
gnomAD v3: 11-66560643-T-G
gnomAD v4: 11-66560643-T-G
MyVariant Identifiers: chr11:g.66560643T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560643T>G , CM000673.2:g.66560643T>G GRCh38
NG_013304.2:g.18724T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1748T>G MANE Select ENSP00000426797.1:p.Met583Arg
ENST00000502692.5:c.1877T>G ENSP00000422007.1:p.Met626Arg
ENST00000513398.1:c.1748T>G ENSP00000426797.1:p.Met583Arg
NM_001104.3:c.1748T>G NP_001095.2:p.Met583Arg
NM_001258371.2:c.1877T>G NP_001245300.2:p.Met626Arg
NM_001104.4:c.1748T>G MANE Select NP_001095.2:p.Met583Arg
NM_001258371.3:c.1877T>G NP_001245300.2:p.Met626Arg
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