Canonical Allele Identifier: CA381446822
Gene: ACTN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.66327782G>C (hg19) chr11:g.66560311G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560311G>C , CM000673.2:g.66560311G>C GRCh38
NC_000011.9:g.66327782G>C , CM000673.1:g.66327782G>C GRCh37
NC_000011.8:g.66084358G>C NCBI36
NG_013304.2:g.18392G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1677G>C MANE Select ENSP00000426797.1:p.Gln559His
ENST00000502692.5:c.1806G>C ENSP00000422007.1:p.Gln602His
ENST00000513398.1:c.1677G>C ENSP00000426797.1:p.Gln559His
NM_001104.3:c.1677G>C NP_001095.2:p.Gln559His
NM_001258371.2:c.1806G>C NP_001245300.2:p.Gln602His
NM_001104.4:c.1677G>C MANE Select NP_001095.2:p.Gln559His
NM_001258371.3:c.1806G>C NP_001245300.2:p.Gln602His
Search 100 bp 5'
Search 100 bp 3'