Canonical Allele Identifier: CA5271609
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 914086
ClinVar RCV Id: RCV001168070
dbSNP Id: rs748688866

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128946108C>T , CM000671.2:g.128946108C>T GRCh38
NC_000009.11:g.131708387C>T , CM000671.1:g.131708387C>T GRCh37
NC_000009.10:g.130748208C>T NCBI36
NG_017009.1:g.6626G>A , LRG_744:g.6626G>A
NG_033111.1:g.3416C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1196G>A MANE Select ENSP00000361667.3:p.Arg399Gln
ENST00000372586.3:c.1196G>A ENSP00000361667.3:p.Arg399Gln
ENST00000482796.1:c.39-3081C>T ENSP00000417556.2:n.39-3081C>T
NM_014908.3:c.1196G>A , LRG_744t1:c.1196G>A NP_055723.1:p.Arg399Gln
NM_014908.4:c.1196G>A MANE Select NP_055723.1:p.Arg399Gln