Canonical Allele Identifier: CA475494400
Gene: ACTN3 HGNC NCBI

Linked Data

dbSNP Id: rs761392416
gnomAD v4: 11-66560690-C-A
MyVariant Identifiers: chr11:g.66328161C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560690C>A , CM000673.2:g.66560690C>A GRCh38
NC_000011.9:g.66328161C>A , CM000673.1:g.66328161C>A GRCh37
NC_000011.8:g.66084737C>A NCBI36
NG_013304.2:g.18771C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1795C>A MANE Select ENSP00000426797.1:p.Arg599=
ENST00000502692.5:c.1924C>A ENSP00000422007.1:p.Arg642=
ENST00000513398.1:c.1795C>A ENSP00000426797.1:p.Arg599=
NM_001104.3:c.1795C>A NP_001095.2:p.Arg599=
NM_001258371.2:c.1924C>A NP_001245300.2:p.Arg642=
NM_001104.4:c.1795C>A MANE Select NP_001095.2:p.Arg599=
NM_001258371.3:c.1924C>A NP_001245300.2:p.Arg642=
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