Canonical Allele Identifier: CA381447562
Gene: ACTN3 HGNC NCBI

Linked Data

COSMIC: COSN1080388
MyVariant Identifiers: chr11:g.66328120T>C (hg19) chr11:g.66560649T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560649T>C , CM000673.2:g.66560649T>C GRCh38
NC_000011.9:g.66328120T>C , CM000673.1:g.66328120T>C GRCh37
NC_000011.8:g.66084696T>C NCBI36
NG_013304.2:g.18730T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1754T>C MANE Select ENSP00000426797.1:p.Ile585Thr
ENST00000502692.5:c.1883T>C ENSP00000422007.1:p.Ile628Thr
ENST00000513398.1:c.1754T>C ENSP00000426797.1:p.Ile585Thr
NM_001104.3:c.1754T>C NP_001095.2:p.Ile585Thr
NM_001258371.2:c.1883T>C NP_001245300.2:p.Ile628Thr
NM_001104.4:c.1754T>C MANE Select NP_001095.2:p.Ile585Thr
NM_001258371.3:c.1883T>C NP_001245300.2:p.Ile628Thr
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