Canonical Allele Identifier: CA195548301
Gene: DAPK1 HGNC NCBI

Linked Data

dbSNP Id: rs531898864
gnomAD v2: 9-90235563-G-A
gnomAD v3: 9-87620648-G-A
gnomAD v4: 9-87620648-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.87620648G>A , CM000671.2:g.87620648G>A GRCh38
NC_000009.11:g.90235563G>A , CM000671.1:g.90235563G>A GRCh37
NC_000009.10:g.89425383G>A NCBI36
NG_029883.1:g.127808G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000408954.8:c.284+15473G>A MANE Select ENSP00000386135.3:n.284+15473G>A
ENST00000358077.9:c.284+15473G>A ENSP00000350785.5:n.284+15473G>A
ENST00000408954.7:c.284+15473G>A ENSP00000386135.3:n.284+15473G>A
ENST00000469067.5:n.764+15473G>A
ENST00000469640.6:c.284+15473G>A ENSP00000418885.3:n.284+15473G>A
ENST00000472284.5:c.284+15473G>A ENSP00000417076.1:n.284+15473G>A
ENST00000472344.1:n.418+15473G>A
ENST00000489291.5:c.284+15473G>A ENSP00000417746.1:n.284+15473G>A
ENST00000491893.5:c.284+15473G>A ENSP00000419026.1:n.284+15473G>A
ENST00000496522.5:n.494+15473G>A
ENST00000622514.4:c.284+15473G>A ENSP00000484267.1:n.284+15473G>A
NM_001288729.1:c.284+15473G>A NP_001275658.1:n.284+15473G>A
NM_001288730.1:c.284+15473G>A NP_001275659.1:n.284+15473G>A
NM_001288731.1:c.284+15473G>A NP_001275660.1:n.284+15473G>A
NM_004938.3:c.284+15473G>A NP_004929.2:n.284+15473G>A
XM_005251757.2:c.284+15473G>A XP_005251814.1:n.284+15473G>A
XM_005251757.4:c.284+15473G>A XP_005251814.1:n.284+15473G>A
NM_004938.4:c.284+15473G>A MANE Select NP_004929.2:n.284+15473G>A
NM_001288730.2:c.284+15473G>A NP_001275659.1:n.284+15473G>A
NM_001288731.2:c.284+15473G>A NP_001275660.1:n.284+15473G>A
NM_001288729.2:c.284+15473G>A NP_001275658.1:n.284+15473G>A