Canonical Allele Identifier: CA475493835
Gene: ACTN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.66327779C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560308C>A , CM000673.2:g.66560308C>A GRCh38
NC_000011.9:g.66327779C>A , CM000673.1:g.66327779C>A GRCh37
NC_000011.8:g.66084355C>A NCBI36
NG_013304.2:g.18389C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1674C>A MANE Select ENSP00000426797.1:p.Thr558=
ENST00000502692.5:c.1803C>A ENSP00000422007.1:p.Thr601=
ENST00000513398.1:c.1674C>A ENSP00000426797.1:p.Thr558=
NM_001104.3:c.1674C>A NP_001095.2:p.Thr558=
NM_001258371.2:c.1803C>A NP_001245300.2:p.Thr601=
NM_001104.4:c.1674C>A MANE Select NP_001095.2:p.Thr558=
NM_001258371.3:c.1803C>A NP_001245300.2:p.Thr601=
Search 100 bp 5'
Search 100 bp 3'