Canonical Allele Identifier: CA5271549
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 1952699
ClinVar RCV Id: RCV002671916
dbSNP Id: rs758093273
ExAC: 9:131708047 A / C
gnomAD v2: 9-131708047-A-C
gnomAD v4: 9-128945768-A-C
MyVariant Identifiers: chr9:g.131708047A>C (hg19) chr9:g.128945768A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128945768A>C , CM000671.2:g.128945768A>C GRCh38
NC_000009.11:g.131708047A>C , CM000671.1:g.131708047A>C GRCh37
NC_000009.10:g.130747868A>C NCBI36
NG_017009.1:g.6966T>G , LRG_744:g.6966T>G
NG_033111.1:g.3076A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372586.4:c.1536T>G MANE Select ENSP00000361667.3:p.Thr512=
ENST00000372586.3:c.1536T>G ENSP00000361667.3:p.Thr512=
ENST00000482796.1:c.39-3421A>C ENSP00000417556.2:n.39-3421A>C
NM_014908.3:c.1536T>G , LRG_744t1:c.1536T>G NP_055723.1:p.Thr512=
NM_014908.4:c.1536T>G MANE Select NP_055723.1:p.Thr512=
Search 100 bp 5'
Search 100 bp 3'