Canonical Allele Identifier: CA2691985626
Gene: DOLK HGNC NCBI

Linked Data

gnomAD v4: 9-128945570-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128945570A>G , CM000671.2:g.128945570A>G GRCh38
NC_000009.11:g.131707849A>G , CM000671.1:g.131707849A>G GRCh37
NC_000009.10:g.130747670A>G NCBI36
NG_017009.1:g.7164T>C , LRG_744:g.7164T>C
NG_033111.1:g.2878A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.*117T>C MANE Select ENSP00000361667.3:n.*117T>C
ENST00000372586.3:c.*117T>C ENSP00000361667.3:n.*117T>C
ENST00000482796.1:c.39-3619A>G ENSP00000417556.2:n.39-3619A>G
NM_014908.3:c.*117T>C , LRG_744t1:c.*117T>C NP_055723.1:n.*117T>C
NM_014908.4:c.*117T>C MANE Select NP_055723.1:n.*117T>C
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