Canonical Allele Identifier: CA467490816
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 1105827
ClinVar RCV Id: RCV001430332
dbSNP Id: rs1229430506
MyVariant Identifiers: chr9:g.131708407C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128946128C>A , CM000671.2:g.128946128C>A GRCh38
NC_000009.11:g.131708407C>A , CM000671.1:g.131708407C>A GRCh37
NC_000009.10:g.130748228C>A NCBI36
NG_017009.1:g.6606G>T , LRG_744:g.6606G>T
NG_033111.1:g.3436C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1176G>T MANE Select ENSP00000361667.3:p.Leu392=
ENST00000372586.3:c.1176G>T ENSP00000361667.3:p.Leu392=
ENST00000482796.1:c.39-3061C>A ENSP00000417556.2:n.39-3061C>A
NM_014908.3:c.1176G>T , LRG_744t1:c.1176G>T NP_055723.1:p.Leu392=
NM_014908.4:c.1176G>T MANE Select NP_055723.1:p.Leu392=
Search 100 bp 5'
Search 100 bp 3'