Canonical Allele Identifier: CA5271573
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 227334
ClinVar RCV Id: RCV000213903 RCV000639762 RCV001568140 RCV002390572
dbSNP Id: rs148930043
ExAC: 9:131708189 C / T
gnomAD v2: 9-131708189-C-T
gnomAD v3: 9-128945910-C-T
gnomAD v4: 9-128945910-C-T
MyVariant Identifiers: chr9:g.131708189C>T (hg19) chr9:g.128945910C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128945910C>T , CM000671.2:g.128945910C>T GRCh38
NC_000009.11:g.131708189C>T , CM000671.1:g.131708189C>T GRCh37
NC_000009.10:g.130748010C>T NCBI36
NG_017009.1:g.6824G>A , LRG_744:g.6824G>A
NG_033111.1:g.3218C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1394G>A MANE Select ENSP00000361667.3:p.Arg465His
ENST00000372586.3:c.1394G>A ENSP00000361667.3:p.Arg465His
ENST00000482796.1:c.39-3279C>T ENSP00000417556.2:n.39-3279C>T
NM_014908.3:c.1394G>A , LRG_744t1:c.1394G>A NP_055723.1:p.Arg465His
NM_014908.4:c.1394G>A MANE Select NP_055723.1:p.Arg465His
Search 100 bp 5'
Search 100 bp 3'