Canonical Allele Identifier: CA1979721908
Gene: ACTN3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560801T= , CM000673.2:g.66560801T= GRCh38
NC_000011.9:g.66328272T= , CM000673.1:g.66328272T= GRCh37
NC_000011.8:g.66084848T= NCBI36
NG_013304.2:g.18882T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1860+46T= MANE Select ENSP00000426797.1:n.1860+46T=
ENST00000502692.5:c.1989+46T= ENSP00000422007.1:n.1989+46T=
ENST00000513398.1:c.1860+46T= ENSP00000426797.1:n.1860+46T=
NM_001104.3:c.1860+46T= NP_001095.2:n.1860+46T=
NM_001258371.2:c.1989+46T= NP_001245300.2:n.1989+46T=
NM_001104.4:c.1860+46T= MANE Select NP_001095.2:n.1860+46T=
NM_001258371.3:c.1989+46T= NP_001245300.2:n.1989+46T=
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