Canonical Allele Identifier: CA1979721556

Gene: ACTN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560671C= , CM000673.2:g.66560671C=	GRCh38
NC_000011.9:g.66328142C= , CM000673.1:g.66328142C=	GRCh37
NC_000011.8:g.66084718C=	NCBI36
NG_013304.2:g.18752C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1776C= MANE Select	ENSP00000426797.1:p.Ile592=
ENST00000502692.5:c.1905C=	ENSP00000422007.1:p.Ile635=
ENST00000513398.1:c.1776C=	ENSP00000426797.1:p.Ile592=
NM_001104.3:c.1776C=	NP_001095.2:p.Ile592=
NM_001258371.2:c.1905C=	NP_001245300.2:p.Ile635=
NM_001104.4:c.1776C= MANE Select	NP_001095.2:p.Ile592=
NM_001258371.3:c.1905C=	NP_001245300.2:p.Ile635=