Canonical Allele Identifier: CA381447516
Gene: ACTN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.66560643T>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000513398.2:c.1748T>A MANE Select ENSP00000426797.1:p.Met583Lys
ENST00000502692.5:c.1877T>A ENSP00000422007.1:p.Met626Lys
ENST00000513398.1:c.1748T>A ENSP00000426797.1:p.Met583Lys
NM_001104.3:c.1748T>A NP_001095.2:p.Met583Lys
NM_001258371.2:c.1877T>A NP_001245300.2:p.Met626Lys
NM_001104.4:c.1748T>A MANE Select NP_001095.2:p.Met583Lys
NM_001258371.3:c.1877T>A NP_001245300.2:p.Met626Lys
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