Canonical Allele Identifier: CA375118132
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 3226324
ClinVar RCV Id: RCV004519559
MyVariant Identifiers: chr9:g.131708288A>T (hg19) chr9:g.128946009A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128946009A>T , CM000671.2:g.128946009A>T GRCh38
NC_000009.11:g.131708288A>T , CM000671.1:g.131708288A>T GRCh37
NC_000009.10:g.130748109A>T NCBI36
NG_017009.1:g.6725T>A , LRG_744:g.6725T>A
NG_033111.1:g.3317A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1295T>A MANE Select ENSP00000361667.3:p.Leu432Gln
ENST00000372586.3:c.1295T>A ENSP00000361667.3:p.Leu432Gln
ENST00000482796.1:c.39-3180A>T ENSP00000417556.2:n.39-3180A>T
NM_014908.3:c.1295T>A , LRG_744t1:c.1295T>A NP_055723.1:p.Leu432Gln
NM_014908.4:c.1295T>A MANE Select NP_055723.1:p.Leu432Gln
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