Canonical Allele Identifier: CA381446799

Gene: ACTN3

Linked Data

• dbSNP Id: rs2134938679
• MyVariant Identifiers: chr11:g.66327778C>T (hg19) ; chr11:g.66560307C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560307C>T , CM000673.2:g.66560307C>T	GRCh38
NC_000011.9:g.66327778C>T , CM000673.1:g.66327778C>T	GRCh37
NC_000011.8:g.66084354C>T	NCBI36
NG_013304.2:g.18388C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1673C>T MANE Select	ENSP00000426797.1:p.Thr558Ile
ENST00000502692.5:c.1802C>T	ENSP00000422007.1:p.Thr601Ile
ENST00000513398.1:c.1673C>T	ENSP00000426797.1:p.Thr558Ile
NM_001104.3:c.1673C>T	NP_001095.2:p.Thr558Ile
NM_001258371.2:c.1802C>T	NP_001245300.2:p.Thr601Ile
NM_001104.4:c.1673C>T MANE Select	NP_001095.2:p.Thr558Ile
NM_001258371.3:c.1802C>T	NP_001245300.2:p.Thr601Ile