Canonical Allele Identifier: CA475493809

Gene: ACTN3

Linked Data

• MyVariant Identifiers: chr11:g.66327761A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560290A>T , CM000673.2:g.66560290A>T	GRCh38
NC_000011.9:g.66327761A>T , CM000673.1:g.66327761A>T	GRCh37
NC_000011.8:g.66084337A>T	NCBI36
NG_013304.2:g.18371A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1656A>T MANE Select	ENSP00000426797.1:p.Val552=
ENST00000502692.5:c.1785A>T	ENSP00000422007.1:p.Val595=
ENST00000513398.1:c.1656A>T	ENSP00000426797.1:p.Val552=
NM_001104.3:c.1656A>T	NP_001095.2:p.Val552=
NM_001258371.2:c.1785A>T	NP_001245300.2:p.Val595=
NM_001104.4:c.1656A>T MANE Select	NP_001095.2:p.Val552=
NM_001258371.3:c.1785A>T	NP_001245300.2:p.Val595=