Canonical Allele Identifier: CA1979721780

Gene: ACTN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560744A= , CM000673.2:g.66560744A=	GRCh38
NC_000011.9:g.66328215A= , CM000673.1:g.66328215A=	GRCh37
NC_000011.8:g.66084791A=	NCBI36
NG_013304.2:g.18825A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1849A= MANE Select	ENSP00000426797.1:p.Lys617=
ENST00000502692.5:c.1978A=	ENSP00000422007.1:p.Lys660=
ENST00000513398.1:c.1849A=	ENSP00000426797.1:p.Lys617=
NM_001104.3:c.1849A=	NP_001095.2:p.Lys617=
NM_001258371.2:c.1978A=	NP_001245300.2:p.Lys660=
NM_001104.4:c.1849A= MANE Select	NP_001095.2:p.Lys617=
NM_001258371.3:c.1978A=	NP_001245300.2:p.Lys660=