Canonical Allele Identifier: CA5271589
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 227333
ClinVar RCV Id: RCV000219890 RCV000549891 RCV001697244 RCV002381730
dbSNP Id: rs148118523
ExAC: 9:131708269 G / A
gnomAD v2: 9-131708269-G-A
gnomAD v3: 9-128945990-G-A
gnomAD v4: 9-128945990-G-A
MyVariant Identifiers: chr9:g.131708269G>A (hg19) chr9:g.128945990G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128945990G>A , CM000671.2:g.128945990G>A GRCh38
NC_000009.11:g.131708269G>A , CM000671.1:g.131708269G>A GRCh37
NC_000009.10:g.130748090G>A NCBI36
NG_017009.1:g.6744C>T , LRG_744:g.6744C>T
NG_033111.1:g.3298G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1314C>T MANE Select ENSP00000361667.3:p.Leu438=
ENST00000372586.3:c.1314C>T ENSP00000361667.3:p.Leu438=
ENST00000482796.1:c.39-3199G>A ENSP00000417556.2:n.39-3199G>A
NM_014908.3:c.1314C>T , LRG_744t1:c.1314C>T NP_055723.1:p.Leu438=
NM_014908.4:c.1314C>T MANE Select NP_055723.1:p.Leu438=
Search 100 bp 5'
Search 100 bp 3'