Canonical Allele Identifier: CA475494373
Gene: ACTN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.66328142C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560671C>T , CM000673.2:g.66560671C>T GRCh38
NC_000011.9:g.66328142C>T , CM000673.1:g.66328142C>T GRCh37
NC_000011.8:g.66084718C>T NCBI36
NG_013304.2:g.18752C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1776C>T MANE Select ENSP00000426797.1:p.Ile592=
ENST00000502692.5:c.1905C>T ENSP00000422007.1:p.Ile635=
ENST00000513398.1:c.1776C>T ENSP00000426797.1:p.Ile592=
NM_001104.3:c.1776C>T NP_001095.2:p.Ile592=
NM_001258371.2:c.1905C>T NP_001245300.2:p.Ile635=
NM_001104.4:c.1776C>T MANE Select NP_001095.2:p.Ile592=
NM_001258371.3:c.1905C>T NP_001245300.2:p.Ile635=