Canonical Allele Identifier: CA375115195
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 2009788
ClinVar RCV Id: RCV002842686
dbSNP Id: rs1564545424
MyVariant Identifiers: chr9:g.131707977G>C (hg19) chr9:g.128945698G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128945698G>C , CM000671.2:g.128945698G>C GRCh38
NC_000009.11:g.131707977G>C , CM000671.1:g.131707977G>C GRCh37
NC_000009.10:g.130747798G>C NCBI36
NG_017009.1:g.7036C>G , LRG_744:g.7036C>G
NG_033111.1:g.3006G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1606C>G MANE Select ENSP00000361667.3:p.Leu536Val
ENST00000372586.3:c.1606C>G ENSP00000361667.3:p.Leu536Val
ENST00000482796.1:c.39-3491G>C ENSP00000417556.2:n.39-3491G>C
NM_014908.3:c.1606C>G , LRG_744t1:c.1606C>G NP_055723.1:p.Leu536Val
NM_014908.4:c.1606C>G MANE Select NP_055723.1:p.Leu536Val
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