Canonical Allele Identifier: CA5271579
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 1376617
ClinVar RCV Id: RCV001886027
dbSNP Id: rs748468540

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128945932C>T , CM000671.2:g.128945932C>T GRCh38
NC_000009.11:g.131708211C>T , CM000671.1:g.131708211C>T GRCh37
NC_000009.10:g.130748032C>T NCBI36
NG_017009.1:g.6802G>A , LRG_744:g.6802G>A
NG_033111.1:g.3240C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1372G>A MANE Select ENSP00000361667.3:p.Gly458Ser
ENST00000372586.3:c.1372G>A ENSP00000361667.3:p.Gly458Ser
ENST00000482796.1:c.39-3257C>T ENSP00000417556.2:n.39-3257C>T
NM_014908.3:c.1372G>A , LRG_744t1:c.1372G>A NP_055723.1:p.Gly458Ser
NM_014908.4:c.1372G>A MANE Select NP_055723.1:p.Gly458Ser