Canonical Allele Identifier: CA381447285

Gene: ACTN3

Linked Data

• MyVariant Identifiers: chr11:g.66560604C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560604C>T , CM000673.2:g.66560604C>T	GRCh38
NG_013304.2:g.18685C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1709C>T MANE Select	ENSP00000426797.1:p.Ala570Val
ENST00000502692.5:c.1838C>T	ENSP00000422007.1:p.Ala613Val
ENST00000513398.1:c.1709C>T	ENSP00000426797.1:p.Ala570Val
NM_001104.3:c.1709C>T	NP_001095.2:p.Ala570Val
NM_001258371.2:c.1838C>T	NP_001245300.2:p.Ala613Val
NM_001104.4:c.1709C>T MANE Select	NP_001095.2:p.Ala570Val
NM_001258371.3:c.1838C>T	NP_001245300.2:p.Ala613Val