Canonical Allele Identifier: CA467489933
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 2160011
ClinVar RCV Id: RCV003087520
MyVariant Identifiers: chr9:g.131708188G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128945909G>C , CM000671.2:g.128945909G>C GRCh38
NC_000009.11:g.131708188G>C , CM000671.1:g.131708188G>C GRCh37
NC_000009.10:g.130748009G>C NCBI36
NG_017009.1:g.6825C>G , LRG_744:g.6825C>G
NG_033111.1:g.3217G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1395C>G MANE Select ENSP00000361667.3:p.Arg465=
ENST00000372586.3:c.1395C>G ENSP00000361667.3:p.Arg465=
ENST00000482796.1:c.39-3280G>C ENSP00000417556.2:n.39-3280G>C
NM_014908.3:c.1395C>G , LRG_744t1:c.1395C>G NP_055723.1:p.Arg465=
NM_014908.4:c.1395C>G MANE Select NP_055723.1:p.Arg465=