Canonical Allele Identifier: CA5271542
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 836909
ClinVar RCV Id: RCV001038132 RCV001805983 RCV002400226
dbSNP Id: rs774524497
ExAC: 9:131708015 A / G
gnomAD v2: 9-131708015-A-G
gnomAD v3: 9-128945736-A-G
gnomAD v4: 9-128945736-A-G
MyVariant Identifiers: chr9:g.131708015A>G (hg19) chr9:g.128945736A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128945736A>G , CM000671.2:g.128945736A>G GRCh38
NC_000009.11:g.131708015A>G , CM000671.1:g.131708015A>G GRCh37
NC_000009.10:g.130747836A>G NCBI36
NG_017009.1:g.6998T>C , LRG_744:g.6998T>C
NG_033111.1:g.3044A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1568T>C MANE Select ENSP00000361667.3:p.Ile523Thr
ENST00000372586.3:c.1568T>C ENSP00000361667.3:p.Ile523Thr
ENST00000482796.1:c.39-3453A>G ENSP00000417556.2:n.39-3453A>G
NM_014908.3:c.1568T>C , LRG_744t1:c.1568T>C NP_055723.1:p.Ile523Thr
NM_014908.4:c.1568T>C MANE Select NP_055723.1:p.Ile523Thr
Search 100 bp 5'
Search 100 bp 3'