Canonical Allele Identifier: CA1979721690

Gene: ACTN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560736T= , CM000673.2:g.66560736T=	GRCh38
NC_000011.9:g.66328207T= , CM000673.1:g.66328207T=	GRCh37
NC_000011.8:g.66084783T=	NCBI36
NG_013304.2:g.18817T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1841T= MANE Select	ENSP00000426797.1:p.Ile614=
ENST00000502692.5:c.1970T=	ENSP00000422007.1:p.Ile657=
ENST00000513398.1:c.1841T=	ENSP00000426797.1:p.Ile614=
NM_001104.3:c.1841T=	NP_001095.2:p.Ile614=
NM_001258371.2:c.1970T=	NP_001245300.2:p.Ile657=
NM_001104.4:c.1841T= MANE Select	NP_001095.2:p.Ile614=
NM_001258371.3:c.1970T=	NP_001245300.2:p.Ile657=