Canonical Allele Identifier: CA475494337

Gene: ACTN3

Linked Data

• MyVariant Identifiers: chr11:g.66328118C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560647C>T , CM000673.2:g.66560647C>T	GRCh38
NC_000011.9:g.66328118C>T , CM000673.1:g.66328118C>T	GRCh37
NC_000011.8:g.66084694C>T	NCBI36
NG_013304.2:g.18728C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000513398.2:c.1752C>T MANE Select	ENSP00000426797.1:p.Gly584=
ENST00000502692.5:c.1881C>T	ENSP00000422007.1:p.Gly627=
ENST00000513398.1:c.1752C>T	ENSP00000426797.1:p.Gly584=
NM_001104.3:c.1752C>T	NP_001095.2:p.Gly584=
NM_001258371.2:c.1881C>T	NP_001245300.2:p.Gly627=
NM_001104.4:c.1752C>T MANE Select	NP_001095.2:p.Gly584=
NM_001258371.3:c.1881C>T	NP_001245300.2:p.Gly627=