Canonical Allele Identifier: CA475494008
Gene: ACTN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.66327838T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560367T>G , CM000673.2:g.66560367T>G GRCh38
NC_000011.9:g.66327838T>G , CM000673.1:g.66327838T>G GRCh37
NC_000011.8:g.66084414T>G NCBI36
NG_013304.2:g.18448T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1677+56T>G MANE Select ENSP00000426797.1:n.1677+56T>G
ENST00000502692.5:c.1806+56T>G ENSP00000422007.1:n.1806+56T>G
ENST00000513398.1:c.1677+56T>G ENSP00000426797.1:n.1677+56T>G
NM_001104.3:c.1677+56T>G NP_001095.2:n.1677+56T>G
NM_001258371.2:c.1806+56T>G NP_001245300.2:n.1806+56T>G
NM_001104.4:c.1677+56T>G MANE Select NP_001095.2:n.1677+56T>G
NM_001258371.3:c.1806+56T>G NP_001245300.2:n.1806+56T>G
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