Canonical Allele Identifier: CA1979720759
Gene: ACTN3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560359C= , CM000673.2:g.66560359C= GRCh38
NC_000011.9:g.66327830C= , CM000673.1:g.66327830C= GRCh37
NC_000011.8:g.66084406C= NCBI36
NG_013304.2:g.18440C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1677+48C= MANE Select ENSP00000426797.1:n.1677+48C=
ENST00000502692.5:c.1806+48C= ENSP00000422007.1:n.1806+48C=
ENST00000513398.1:c.1677+48C= ENSP00000426797.1:n.1677+48C=
NM_001104.3:c.1677+48C= NP_001095.2:n.1677+48C=
NM_001258371.2:c.1806+48C= NP_001245300.2:n.1806+48C=
NM_001104.4:c.1677+48C= MANE Select NP_001095.2:n.1677+48C=
NM_001258371.3:c.1806+48C= NP_001245300.2:n.1806+48C=
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