Canonical Allele Identifier: CA200444546
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 1044644
dbSNP Id: rs982668501

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128946126G>A , CM000671.2:g.128946126G>A GRCh38
NC_000009.11:g.131708405G>A , CM000671.1:g.131708405G>A GRCh37
NC_000009.10:g.130748226G>A NCBI36
NG_017009.1:g.6608C>T , LRG_744:g.6608C>T
NG_033111.1:g.3434G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1178C>T MANE Select ENSP00000361667.3:p.Ser393Phe
ENST00000372586.3:c.1178C>T ENSP00000361667.3:p.Ser393Phe
ENST00000482796.1:c.39-3063G>A ENSP00000417556.2:n.39-3063G>A
NM_014908.3:c.1178C>T , LRG_744t1:c.1178C>T NP_055723.1:p.Ser393Phe
NM_014908.4:c.1178C>T MANE Select NP_055723.1:p.Ser393Phe