Canonical Allele Identifier: CA381446632
Gene: ACTN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560288G>C , CM000673.2:g.66560288G>C GRCh38
NC_000011.9:g.66327759G>C , CM000673.1:g.66327759G>C GRCh37
NC_000011.8:g.66084335G>C NCBI36
NG_013304.2:g.18369G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1654G>C MANE Select ENSP00000426797.1:p.Val552Leu
ENST00000502692.5:c.1783G>C ENSP00000422007.1:p.Val595Leu
ENST00000513398.1:c.1654G>C ENSP00000426797.1:p.Val552Leu
NM_001104.3:c.1654G>C NP_001095.2:p.Val552Leu
NM_001258371.2:c.1783G>C NP_001245300.2:p.Val595Leu
NM_001104.4:c.1654G>C MANE Select NP_001095.2:p.Val552Leu
NM_001258371.3:c.1783G>C NP_001245300.2:p.Val595Leu