Canonical Allele Identifier: CA381447830
Gene: ACTN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.66328159T>A (hg19) chr11:g.66560688T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560688T>A , CM000673.2:g.66560688T>A GRCh38
NC_000011.9:g.66328159T>A , CM000673.1:g.66328159T>A GRCh37
NC_000011.8:g.66084735T>A NCBI36
NG_013304.2:g.18769T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1793T>A MANE Select ENSP00000426797.1:p.Leu598Gln
ENST00000502692.5:c.1922T>A ENSP00000422007.1:p.Leu641Gln
ENST00000513398.1:c.1793T>A ENSP00000426797.1:p.Leu598Gln
NM_001104.3:c.1793T>A NP_001095.2:p.Leu598Gln
NM_001258371.2:c.1922T>A NP_001245300.2:p.Leu641Gln
NM_001104.4:c.1793T>A MANE Select NP_001095.2:p.Leu598Gln
NM_001258371.3:c.1922T>A NP_001245300.2:p.Leu641Gln
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