Canonical Allele Identifier: CA5271586
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 464196
ClinVar RCV Id: RCV000560278 RCV000606924 RCV002384121
dbSNP Id: rs143641133
ExAC: 9:131708259 C / T
gnomAD v2: 9-131708259-C-T
gnomAD v3: 9-128945980-C-T
gnomAD v4: 9-128945980-C-T
MyVariant Identifiers: chr9:g.131708259C>T (hg19) chr9:g.128945980C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128945980C>T , CM000671.2:g.128945980C>T GRCh38
NC_000009.11:g.131708259C>T , CM000671.1:g.131708259C>T GRCh37
NC_000009.10:g.130748080C>T NCBI36
NG_017009.1:g.6754G>A , LRG_744:g.6754G>A
NG_033111.1:g.3288C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1324G>A MANE Select ENSP00000361667.3:p.Ala442Thr
ENST00000372586.3:c.1324G>A ENSP00000361667.3:p.Ala442Thr
ENST00000482796.1:c.39-3209C>T ENSP00000417556.2:n.39-3209C>T
NM_014908.3:c.1324G>A , LRG_744t1:c.1324G>A NP_055723.1:p.Ala442Thr
NM_014908.4:c.1324G>A MANE Select NP_055723.1:p.Ala442Thr
Search 100 bp 5'
Search 100 bp 3'