Canonical Allele Identifier: CA224075729

Gene: ACTN3

Linked Data

• dbSNP Id: rs780748320
• gnomAD v4: 11-66560445-C-T
• MyVariant Identifiers: chr11:g.66327916C>T (hg19) ; chr11:g.66560445C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560445C>T , CM000673.2:g.66560445C>T	GRCh38
NC_000011.9:g.66327916C>T , CM000673.1:g.66327916C>T	GRCh37
NC_000011.8:g.66084492C>T	NCBI36
NG_013304.2:g.18526C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000513398.2:c.1678-128C>T MANE Select	ENSP00000426797.1:n.1678-128C>T
ENST00000502692.5:c.1807-128C>T	ENSP00000422007.1:n.1807-128C>T
ENST00000513398.1:c.1678-128C>T	ENSP00000426797.1:n.1678-128C>T
NM_001104.3:c.1678-128C>T	NP_001095.2:n.1678-128C>T
NM_001258371.2:c.1807-128C>T	NP_001245300.2:n.1807-128C>T
NM_001104.4:c.1678-128C>T MANE Select	NP_001095.2:n.1678-128C>T
NM_001258371.3:c.1807-128C>T	NP_001245300.2:n.1807-128C>T