Canonical Allele Identifier: CA938984592
Gene: ACTN3 HGNC NCBI

Linked Data

dbSNP Id: rs1857740190
gnomAD v3: 11-66560782-C-A
gnomAD v4: 11-66560782-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560782C>A , CM000673.2:g.66560782C>A GRCh38
NC_000011.9:g.66328253C>A , CM000673.1:g.66328253C>A GRCh37
NC_000011.8:g.66084829C>A NCBI36
NG_013304.2:g.18863C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1860+27C>A MANE Select ENSP00000426797.1:n.1860+27C>A
ENST00000502692.5:c.1989+27C>A ENSP00000422007.1:n.1989+27C>A
ENST00000513398.1:c.1860+27C>A ENSP00000426797.1:n.1860+27C>A
NM_001104.3:c.1860+27C>A NP_001095.2:n.1860+27C>A
NM_001258371.2:c.1989+27C>A NP_001245300.2:n.1989+27C>A
NM_001104.4:c.1860+27C>A MANE Select NP_001095.2:n.1860+27C>A
NM_001258371.3:c.1989+27C>A NP_001245300.2:n.1989+27C>A
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