Canonical Allele Identifier: CA200444471
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 947355
ClinVar RCV Id: RCV001218417 RCV002379823
dbSNP Id: rs140983401
gnomAD v2: 9-131708295-C-G
gnomAD v3: 9-128946016-C-G
gnomAD v4: 9-128946016-C-G
MyVariant Identifiers: chr9:g.131708295C>G (hg19) chr9:g.128946016C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128946016C>G , CM000671.2:g.128946016C>G GRCh38
NC_000009.11:g.131708295C>G , CM000671.1:g.131708295C>G GRCh37
NC_000009.10:g.130748116C>G NCBI36
NG_017009.1:g.6718G>C , LRG_744:g.6718G>C
NG_033111.1:g.3324C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1288G>C MANE Select ENSP00000361667.3:p.Gly430Arg
ENST00000372586.3:c.1288G>C ENSP00000361667.3:p.Gly430Arg
ENST00000482796.1:c.39-3173C>G ENSP00000417556.2:n.39-3173C>G
NM_014908.3:c.1288G>C , LRG_744t1:c.1288G>C NP_055723.1:p.Gly430Arg
NM_014908.4:c.1288G>C MANE Select NP_055723.1:p.Gly430Arg
Search 100 bp 5'
Search 100 bp 3'