Canonical Allele Identifier: CA5271616

Gene: DOLK

Linked Data

• ClinVar Variation Id: 583408
• ClinVar RCV Id: RCV000707736 ; RCV002325438
• dbSNP Id: rs758129067
• ExAC: 9:131708418 G / A
• gnomAD v2: 9-131708418-G-A
• gnomAD v3: 9-128946139-G-A
• gnomAD v4: 9-128946139-G-A
• MyVariant Identifiers: chr9:g.131708418G>A (hg19) ; chr9:g.128946139G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128946139G>A , CM000671.2:g.128946139G>A	GRCh38
NC_000009.11:g.131708418G>A , CM000671.1:g.131708418G>A	GRCh37
NC_000009.10:g.130748239G>A	NCBI36
NG_017009.1:g.6595C>T , LRG_744:g.6595C>T
NG_033111.1:g.3447G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372586.4:c.1165C>T MANE Select	ENSP00000361667.3:p.Arg389Trp
ENST00000372586.3:c.1165C>T	ENSP00000361667.3:p.Arg389Trp
ENST00000482796.1:c.39-3050G>A	ENSP00000417556.2:n.39-3050G>A
NM_014908.3:c.1165C>T , LRG_744t1:c.1165C>T	NP_055723.1:p.Arg389Trp
NM_014908.4:c.1165C>T MANE Select	NP_055723.1:p.Arg389Trp