Canonical Allele Identifier: CA5271594
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 940209
ClinVar RCV Id: RCV001209746 RCV002379795
dbSNP Id: rs189623590
ExAC: 9:131708300 T / G
gnomAD v2: 9-131708300-T-G
gnomAD v3: 9-128946021-T-G
gnomAD v4: 9-128946021-T-G
MyVariant Identifiers: chr9:g.131708300T>G (hg19) chr9:g.131708300_131708301delinsGG (hg19) chr9:g.128946021T>G (hg38) chr9:g.128946021_128946022delinsGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128946021T>G , CM000671.2:g.128946021T>G GRCh38
NC_000009.11:g.131708300T>G , CM000671.1:g.131708300T>G GRCh37
NC_000009.10:g.130748121T>G NCBI36
NG_017009.1:g.6713A>C , LRG_744:g.6713A>C
NG_033111.1:g.3329T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1283A>C MANE Select ENSP00000361667.3:p.Gln428Pro
ENST00000372586.3:c.1283A>C ENSP00000361667.3:p.Gln428Pro
ENST00000482796.1:c.39-3168T>G ENSP00000417556.2:n.39-3168T>G
NM_014908.3:c.1283A>C , LRG_744t1:c.1283A>C NP_055723.1:p.Gln428Pro
NM_014908.4:c.1283A>C MANE Select NP_055723.1:p.Gln428Pro
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