Canonical Allele Identifier: CA1979720551

Gene: ACTN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560287G= , CM000673.2:g.66560287G=	GRCh38
NC_000011.9:g.66327758G= , CM000673.1:g.66327758G=	GRCh37
NC_000011.8:g.66084334G=	NCBI36
NG_013304.2:g.18368G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1653G= MANE Select	ENSP00000426797.1:p.Leu551=
ENST00000502692.5:c.1782G=	ENSP00000422007.1:p.Leu594=
ENST00000513398.1:c.1653G=	ENSP00000426797.1:p.Leu551=
NM_001104.3:c.1653G=	NP_001095.2:p.Leu551=
NM_001258371.2:c.1782G=	NP_001245300.2:p.Leu594=
NM_001104.4:c.1653G= MANE Select	NP_001095.2:p.Leu551=
NM_001258371.3:c.1782G=	NP_001245300.2:p.Leu594=