Canonical Allele Identifier: CA375117633
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 3226325
ClinVar RCV Id: RCV004519560
dbSNP Id: rs137853110
gnomAD v2: 9-131708261-T-C
gnomAD v4: 9-128945982-T-C
MyVariant Identifiers: chr9:g.131708261T>C (hg19) chr9:g.128945982T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128945982T>C , CM000671.2:g.128945982T>C GRCh38
NC_000009.11:g.131708261T>C , CM000671.1:g.131708261T>C GRCh37
NC_000009.10:g.130748082T>C NCBI36
NG_017009.1:g.6752A>G , LRG_744:g.6752A>G
NG_033111.1:g.3290T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1322A>G MANE Select ENSP00000361667.3:p.Tyr441Cys
ENST00000372586.3:c.1322A>G ENSP00000361667.3:p.Tyr441Cys
ENST00000482796.1:c.39-3207T>C ENSP00000417556.2:n.39-3207T>C
NM_014908.3:c.1322A>G , LRG_744t1:c.1322A>G NP_055723.1:p.Tyr441Cys
NM_014908.4:c.1322A>G MANE Select NP_055723.1:p.Tyr441Cys
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