Canonical Allele Identifier: CA5271611
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 2157582
ClinVar RCV Id: RCV003078175
dbSNP Id: rs760249788
ExAC: 9:131708388 G / C
gnomAD v2: 9-131708388-G-C
gnomAD v4: 9-128946109-G-C
MyVariant Identifiers: chr9:g.131708388G>C (hg19) chr9:g.128946109G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128946109G>C , CM000671.2:g.128946109G>C GRCh38
NC_000009.11:g.131708388G>C , CM000671.1:g.131708388G>C GRCh37
NC_000009.10:g.130748209G>C NCBI36
NG_017009.1:g.6625C>G , LRG_744:g.6625C>G
NG_033111.1:g.3417G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1195C>G MANE Select ENSP00000361667.3:p.Arg399Gly
ENST00000372586.3:c.1195C>G ENSP00000361667.3:p.Arg399Gly
ENST00000482796.1:c.39-3080G>C ENSP00000417556.2:n.39-3080G>C
NM_014908.3:c.1195C>G , LRG_744t1:c.1195C>G NP_055723.1:p.Arg399Gly
NM_014908.4:c.1195C>G MANE Select NP_055723.1:p.Arg399Gly
Search 100 bp 5'
Search 100 bp 3'