Canonical Allele Identifier: CA10632494
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 365191
ClinVar RCV Id: RCV000338110
dbSNP Id: rs758102948
gnomAD v2: 9-131707842-T-C
gnomAD v3: 9-128945563-T-C
gnomAD v4: 9-128945563-T-C
MyVariant Identifiers: chr9:g.131707842T>C (hg19) chr9:g.128945563T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128945563T>C , CM000671.2:g.128945563T>C GRCh38
NC_000009.11:g.131707842T>C , CM000671.1:g.131707842T>C GRCh37
NC_000009.10:g.130747663T>C NCBI36
NG_017009.1:g.7171A>G , LRG_744:g.7171A>G
NG_033111.1:g.2871T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.*124A>G MANE Select ENSP00000361667.3:n.*124A>G
ENST00000372586.3:c.*124A>G ENSP00000361667.3:n.*124A>G
ENST00000482796.1:c.39-3626T>C ENSP00000417556.2:n.39-3626T>C
NM_014908.3:c.*124A>G , LRG_744t1:c.*124A>G NP_055723.1:n.*124A>G
NM_014908.4:c.*124A>G MANE Select NP_055723.1:n.*124A>G
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