Canonical Allele Identifier: CA381446803

Gene: ACTN3

Linked Data

• MyVariant Identifiers: chr11:g.66327780C>G (hg19) ; chr11:g.66560309C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560309C>G , CM000673.2:g.66560309C>G	GRCh38
NC_000011.9:g.66327780C>G , CM000673.1:g.66327780C>G	GRCh37
NC_000011.8:g.66084356C>G	NCBI36
NG_013304.2:g.18390C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1675C>G MANE Select	ENSP00000426797.1:p.Gln559Glu
ENST00000502692.5:c.1804C>G	ENSP00000422007.1:p.Gln602Glu
ENST00000513398.1:c.1675C>G	ENSP00000426797.1:p.Gln559Glu
NM_001104.3:c.1675C>G	NP_001095.2:p.Gln559Glu
NM_001258371.2:c.1804C>G	NP_001245300.2:p.Gln602Glu
NM_001104.4:c.1675C>G MANE Select	NP_001095.2:p.Gln559Glu
NM_001258371.3:c.1804C>G	NP_001245300.2:p.Gln602Glu