Canonical Allele Identifier: CA2792479691
Gene: ACTN3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560775T>C , CM000673.2:g.66560775T>C GRCh38
NC_000011.9:g.66328246T>C , CM000673.1:g.66328246T>C GRCh37
NC_000011.8:g.66084822T>C NCBI36
NG_013304.2:g.18856T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1860+20T>C MANE Select ENSP00000426797.1:n.1860+20T>C
ENST00000502692.5:c.1989+20T>C ENSP00000422007.1:n.1989+20T>C
ENST00000513398.1:c.1860+20T>C ENSP00000426797.1:n.1860+20T>C
NM_001104.3:c.1860+20T>C NP_001095.2:n.1860+20T>C
NM_001258371.2:c.1989+20T>C NP_001245300.2:n.1989+20T>C
NM_001104.4:c.1860+20T>C MANE Select NP_001095.2:n.1860+20T>C
NM_001258371.3:c.1989+20T>C NP_001245300.2:n.1989+20T>C
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