Canonical Allele Identifier: CA475494061
Gene: ACTN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.66327853T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560382T>A , CM000673.2:g.66560382T>A GRCh38
NC_000011.9:g.66327853T>A , CM000673.1:g.66327853T>A GRCh37
NC_000011.8:g.66084429T>A NCBI36
NG_013304.2:g.18463T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1677+71T>A MANE Select ENSP00000426797.1:n.1677+71T>A
ENST00000502692.5:c.1806+71T>A ENSP00000422007.1:n.1806+71T>A
ENST00000513398.1:c.1677+71T>A ENSP00000426797.1:n.1677+71T>A
NM_001104.3:c.1677+71T>A NP_001095.2:n.1677+71T>A
NM_001258371.2:c.1806+71T>A NP_001245300.2:n.1806+71T>A
NM_001104.4:c.1677+71T>A MANE Select NP_001095.2:n.1677+71T>A
NM_001258371.3:c.1806+71T>A NP_001245300.2:n.1806+71T>A