Canonical Allele Identifier: CA375118045
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 1377915
ClinVar RCV Id: RCV001890019
dbSNP Id: rs2131127105
gnomAD v4: 9-128946004-C-T
MyVariant Identifiers: chr9:g.131708283C>T (hg19) chr9:g.128946004C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128946004C>T , CM000671.2:g.128946004C>T GRCh38
NC_000009.11:g.131708283C>T , CM000671.1:g.131708283C>T GRCh37
NC_000009.10:g.130748104C>T NCBI36
NG_017009.1:g.6730G>A , LRG_744:g.6730G>A
NG_033111.1:g.3312C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1300G>A MANE Select ENSP00000361667.3:p.Gly434Arg
ENST00000372586.3:c.1300G>A ENSP00000361667.3:p.Gly434Arg
ENST00000482796.1:c.39-3185C>T ENSP00000417556.2:n.39-3185C>T
NM_014908.3:c.1300G>A , LRG_744t1:c.1300G>A NP_055723.1:p.Gly434Arg
NM_014908.4:c.1300G>A MANE Select NP_055723.1:p.Gly434Arg
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Search 100 bp 3'