Canonical Allele Identifier: CA130364

Gene: DHTKD1

Linked Data

• ClinVar Variation Id: 39566
• ClinVar RCV Id: RCV000032766 ; RCV003447101
• dbSNP Id: rs606231237
• gnomAD v2: 10-12139779-T-G
• gnomAD v4: 10-12097780-T-G
• MyVariant Identifiers: chr10:g.12139779T>G (hg19) ; chr10:g.12097780T>G (hg38)
• PubMed: PMID:23141294

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.12097780T>G , CM000672.2:g.12097780T>G	GRCh38
NC_000010.10:g.12139779T>G , CM000672.1:g.12139779T>G	GRCh37
NC_000010.9:g.12179785T>G	NCBI36
NG_033248.1:g.33864T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263035.9:c.1455T>G MANE Select	ENSP00000263035.4:p.Tyr485Ter
ENST00000263035.8:c.1455T>G	ENSP00000263035.4:p.Tyr485Ter
ENST00000448829.1:c.109T>G
ENST00000465617.1:n.595T>G
NM_018706.6:c.1455T>G	NP_061176.3:p.Tyr485Ter
NM_018706.7:c.1455T>G MANE Select	NP_061176.4:p.Tyr485Ter