Canonical Allele Identifier: CA375115511
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 1775429
ClinVar RCV Id: RCV002405582
dbSNP Id: rs1225681339

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128945735T>C , CM000671.2:g.128945735T>C GRCh38
NC_000009.11:g.131708014T>C , CM000671.1:g.131708014T>C GRCh37
NC_000009.10:g.130747835T>C NCBI36
NG_017009.1:g.6999A>G , LRG_744:g.6999A>G
NG_033111.1:g.3043T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1569A>G MANE Select ENSP00000361667.3:p.Ile523Met
ENST00000372586.3:c.1569A>G ENSP00000361667.3:p.Ile523Met
ENST00000482796.1:c.39-3454T>C ENSP00000417556.2:n.39-3454T>C
NM_014908.3:c.1569A>G , LRG_744t1:c.1569A>G NP_055723.1:p.Ile523Met
NM_014908.4:c.1569A>G MANE Select NP_055723.1:p.Ile523Met