Canonical Allele Identifier: CA381447526

Gene: ACTN3

Linked Data

• MyVariant Identifiers: chr11:g.66560644G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560644G>T , CM000673.2:g.66560644G>T	GRCh38
NG_013304.2:g.18725G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000513398.2:c.1749G>T MANE Select	ENSP00000426797.1:p.Met583Ile
ENST00000502692.5:c.1878G>T	ENSP00000422007.1:p.Met626Ile
ENST00000513398.1:c.1749G>T	ENSP00000426797.1:p.Met583Ile
NM_001104.3:c.1749G>T	NP_001095.2:p.Met583Ile
NM_001258371.2:c.1878G>T	NP_001245300.2:p.Met626Ile
NM_001104.4:c.1749G>T MANE Select	NP_001095.2:p.Met583Ile
NM_001258371.3:c.1878G>T	NP_001245300.2:p.Met626Ile