Canonical Allele Identifier: CA130362

Gene: DHTKD1

Linked Data

• ClinVar Variation Id: 39565
• ClinVar RCV Id: RCV000032765 ; RCV003447100
• dbSNP Id: rs397514534
• ExAC: 10:12136140 C / T
• gnomAD v2: 10-12136140-C-T
• gnomAD v3: 10-12094141-C-T
• gnomAD v4: 10-12094141-C-T
• MyVariant Identifiers: chr10:g.12136140C>T (hg19) ; chr10:g.12094141C>T (hg38)
• PubMed: PMID:23141293

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.12094141C>T , CM000672.2:g.12094141C>T	GRCh38
NC_000010.10:g.12136140C>T , CM000672.1:g.12136140C>T	GRCh37
NC_000010.9:g.12176146C>T	NCBI36
NG_033248.1:g.30225C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263035.9:c.1228C>T MANE Select	ENSP00000263035.4:p.Arg410Ter
ENST00000263035.8:c.1228C>T	ENSP00000263035.4:p.Arg410Ter
ENST00000415935.1:c.322C>T	ENSP00000400625.1:p.Arg108Ter
ENST00000465617.1:n.368C>T
NM_018706.6:c.1228C>T	NP_061176.3:p.Arg410Ter
NM_018706.7:c.1228C>T MANE Select	NP_061176.4:p.Arg410Ter