Canonical Allele Identifier: CA5408069

Gene: DHTKD1

Linked Data

• ClinVar Variation Id: 467824
• ClinVar RCV Id: RCV000535744 ; RCV001335923
• dbSNP Id: rs760386662
• ExAC: 10:12148244 G / A
• gnomAD v2: 10-12148244-G-A
• gnomAD v3: 10-12106245-G-A
• gnomAD v4: 10-12106245-G-A
• COSMIC: COSM5969681
• MyVariant Identifiers: chr10:g.12148244G>A (hg19) ; chr10:g.12106245G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.12106245G>A , CM000672.2:g.12106245G>A	GRCh38
NC_000010.10:g.12148244G>A , CM000672.1:g.12148244G>A	GRCh37
NC_000010.9:g.12188250G>A	NCBI36
NG_033248.1:g.42329G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263035.9:c.1897-1G>A MANE Select	ENSP00000263035.4:n.1897-1G>A
ENST00000263035.8:c.1897-1G>A	ENSP00000263035.4:n.1897-1G>A
ENST00000448829.1:c.551-1664G>A
NM_018706.6:c.1897-1G>A	NP_061176.3:n.1897-1G>A
NM_018706.7:c.1897-1G>A MANE Select	NP_061176.4:n.1897-1G>A