Canonical Allele Identifier: CA2614513734
Gene: ACTN3 HGNC NCBI

Linked Data

gnomAD v4: 11-66560438-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560438T>C , CM000673.2:g.66560438T>C GRCh38
NC_000011.9:g.66327909T>C , CM000673.1:g.66327909T>C GRCh37
NC_000011.8:g.66084485T>C NCBI36
NG_013304.2:g.18519T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1677+127T>C MANE Select ENSP00000426797.1:n.1677+127T>C
ENST00000502692.5:c.1806+127T>C ENSP00000422007.1:n.1806+127T>C
ENST00000513398.1:c.1677+127T>C ENSP00000426797.1:n.1677+127T>C
NM_001104.3:c.1677+127T>C NP_001095.2:n.1677+127T>C
NM_001258371.2:c.1806+127T>C NP_001245300.2:n.1806+127T>C
NM_001104.4:c.1677+127T>C MANE Select NP_001095.2:n.1677+127T>C
NM_001258371.3:c.1806+127T>C NP_001245300.2:n.1806+127T>C
Search 100 bp 5'
Search 100 bp 3'