Canonical Allele Identifier: CA5271534
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 913691
ClinVar RCV Id: RCV001167456
dbSNP Id: rs368635795
ExAC: 9:131707946 C / T
gnomAD v2: 9-131707946-C-T
gnomAD v3: 9-128945667-C-T
gnomAD v4: 9-128945667-C-T
MyVariant Identifiers: chr9:g.131707946C>T (hg19) chr9:g.128945667C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128945667C>T , CM000671.2:g.128945667C>T GRCh38
NC_000009.11:g.131707946C>T , CM000671.1:g.131707946C>T GRCh37
NC_000009.10:g.130747767C>T NCBI36
NG_017009.1:g.7067G>A , LRG_744:g.7067G>A
NG_033111.1:g.2975C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.*20G>A MANE Select ENSP00000361667.3:n.*20G>A
ENST00000372586.3:c.*20G>A ENSP00000361667.3:n.*20G>A
ENST00000482796.1:c.39-3522C>T ENSP00000417556.2:n.39-3522C>T
NM_014908.3:c.*20G>A , LRG_744t1:c.*20G>A NP_055723.1:n.*20G>A
NM_014908.4:c.*20G>A MANE Select NP_055723.1:n.*20G>A
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