Canonical Allele Identifier: CA5271617
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 2625608
ClinVar RCV Id: RCV003380367
dbSNP Id: rs777991465
ExAC: 9:131708419 T / C
gnomAD v2: 9-131708419-T-C
gnomAD v3: 9-128946140-T-C
gnomAD v4: 9-128946140-T-C
MyVariant Identifiers: chr9:g.131708419T>C (hg19) chr9:g.128946140T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128946140T>C , CM000671.2:g.128946140T>C GRCh38
NC_000009.11:g.131708419T>C , CM000671.1:g.131708419T>C GRCh37
NC_000009.10:g.130748240T>C NCBI36
NG_017009.1:g.6594A>G , LRG_744:g.6594A>G
NG_033111.1:g.3448T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1164A>G MANE Select ENSP00000361667.3:p.Leu388=
ENST00000372586.3:c.1164A>G ENSP00000361667.3:p.Leu388=
ENST00000482796.1:c.39-3049T>C ENSP00000417556.2:n.39-3049T>C
NM_014908.3:c.1164A>G , LRG_744t1:c.1164A>G NP_055723.1:p.Leu388=
NM_014908.4:c.1164A>G MANE Select NP_055723.1:p.Leu388=
Search 100 bp 5'
Search 100 bp 3'