Canonical Allele Identifier: CA938984483
Gene: ACTN3 HGNC NCBI

Linked Data

dbSNP Id: rs1857728297
gnomAD v3: 11-66560491-G-A
gnomAD v4: 11-66560491-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560491G>A , CM000673.2:g.66560491G>A GRCh38
NC_000011.9:g.66327962G>A , CM000673.1:g.66327962G>A GRCh37
NC_000011.8:g.66084538G>A NCBI36
NG_013304.2:g.18572G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1678-82G>A MANE Select ENSP00000426797.1:n.1678-82G>A
ENST00000502692.5:c.1807-82G>A ENSP00000422007.1:n.1807-82G>A
ENST00000513398.1:c.1678-82G>A ENSP00000426797.1:n.1678-82G>A
NM_001104.3:c.1678-82G>A NP_001095.2:n.1678-82G>A
NM_001258371.2:c.1807-82G>A NP_001245300.2:n.1807-82G>A
NM_001104.4:c.1678-82G>A MANE Select NP_001095.2:n.1678-82G>A
NM_001258371.3:c.1807-82G>A NP_001245300.2:n.1807-82G>A
Search 100 bp 5'
Search 100 bp 3'