Canonical Allele Identifier: CA381446810

Gene: ACTN3

Linked Data

• MyVariant Identifiers: chr11:g.66327781A>T (hg19) ; chr11:g.66560310A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560310A>T , CM000673.2:g.66560310A>T	GRCh38
NC_000011.9:g.66327781A>T , CM000673.1:g.66327781A>T	GRCh37
NC_000011.8:g.66084357A>T	NCBI36
NG_013304.2:g.18391A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1676A>T MANE Select	ENSP00000426797.1:p.Gln559Leu
ENST00000502692.5:c.1805A>T	ENSP00000422007.1:p.Gln602Leu
ENST00000513398.1:c.1676A>T	ENSP00000426797.1:p.Gln559Leu
NM_001104.3:c.1676A>T	NP_001095.2:p.Gln559Leu
NM_001258371.2:c.1805A>T	NP_001245300.2:p.Gln602Leu
NM_001104.4:c.1676A>T MANE Select	NP_001095.2:p.Gln559Leu
NM_001258371.3:c.1805A>T	NP_001245300.2:p.Gln602Leu