Canonical Allele Identifier: CA5271614
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 2190627
ClinVar RCV Id: RCV002628160 RCV003946322
dbSNP Id: rs192515773
ExAC: 9:131708413 G / A
gnomAD v2: 9-131708413-G-A
gnomAD v3: 9-128946134-G-A
gnomAD v4: 9-128946134-G-A
MyVariant Identifiers: chr9:g.131708413G>A (hg19) chr9:g.128946134G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128946134G>A , CM000671.2:g.128946134G>A GRCh38
NC_000009.11:g.131708413G>A , CM000671.1:g.131708413G>A GRCh37
NC_000009.10:g.130748234G>A NCBI36
NG_017009.1:g.6600C>T , LRG_744:g.6600C>T
NG_033111.1:g.3442G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1170C>T MANE Select ENSP00000361667.3:p.Ser390=
ENST00000372586.3:c.1170C>T ENSP00000361667.3:p.Ser390=
ENST00000482796.1:c.39-3055G>A ENSP00000417556.2:n.39-3055G>A
NM_014908.3:c.1170C>T , LRG_744t1:c.1170C>T NP_055723.1:p.Ser390=
NM_014908.4:c.1170C>T MANE Select NP_055723.1:p.Ser390=
Search 100 bp 5'
Search 100 bp 3'