Canonical Allele Identifier: CA5271605
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 2849036
ClinVar RCV Id: RCV003602406
dbSNP Id: rs770126479
ExAC: 9:131708359 G / A
gnomAD v2: 9-131708359-G-A
gnomAD v4: 9-128946080-G-A
MyVariant Identifiers: chr9:g.131708359G>A (hg19) chr9:g.128946080G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128946080G>A , CM000671.2:g.128946080G>A GRCh38
NC_000009.11:g.131708359G>A , CM000671.1:g.131708359G>A GRCh37
NC_000009.10:g.130748180G>A NCBI36
NG_017009.1:g.6654C>T , LRG_744:g.6654C>T
NG_033111.1:g.3388G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1224C>T MANE Select ENSP00000361667.3:p.His408=
ENST00000372586.3:c.1224C>T ENSP00000361667.3:p.His408=
ENST00000482796.1:c.39-3109G>A ENSP00000417556.2:n.39-3109G>A
NM_014908.3:c.1224C>T , LRG_744t1:c.1224C>T NP_055723.1:p.His408=
NM_014908.4:c.1224C>T MANE Select NP_055723.1:p.His408=
Search 100 bp 5'
Search 100 bp 3'