Canonical Allele Identifier: CA467490302
Gene: DOLK HGNC NCBI

Linked Data

dbSNP Id: rs758093273
gnomAD v2: 9-131708047-A-G
gnomAD v4: 9-128945768-A-G
MyVariant Identifiers: chr9:g.131708047A>G (hg19) chr9:g.128945768A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128945768A>G , CM000671.2:g.128945768A>G GRCh38
NC_000009.11:g.131708047A>G , CM000671.1:g.131708047A>G GRCh37
NC_000009.10:g.130747868A>G NCBI36
NG_017009.1:g.6966T>C , LRG_744:g.6966T>C
NG_033111.1:g.3076A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000372586.4:c.1536T>C MANE Select ENSP00000361667.3:p.Thr512=
ENST00000372586.3:c.1536T>C ENSP00000361667.3:p.Thr512=
ENST00000482796.1:c.39-3421A>G ENSP00000417556.2:n.39-3421A>G
NM_014908.3:c.1536T>C , LRG_744t1:c.1536T>C NP_055723.1:p.Thr512=
NM_014908.4:c.1536T>C MANE Select NP_055723.1:p.Thr512=
Search 100 bp 5'
Search 100 bp 3'