Canonical Allele Identifier: CA130360
Gene: DHTKD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 39564
ClinVar RCV Id: RCV000032764 RCV000199635 RCV000238689 RCV000791040
dbSNP Id: rs117225135
ExAC: 10:12154929 G / A
gnomAD v2: 10-12154929-G-A
gnomAD v3: 10-12112930-G-A
gnomAD v4: 10-12112930-G-A
MyVariant Identifiers: chr10:g.12154929G>A (hg19) chr10:g.12112930G>A (hg38)
PubMed: PMID:23141293
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12112930G>A , CM000672.2:g.12112930G>A GRCh38
NC_000010.10:g.12154929G>A , CM000672.1:g.12154929G>A GRCh37
NC_000010.9:g.12194935G>A NCBI36
NG_033248.1:g.49014G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263035.9:c.2185G>A MANE Select ENSP00000263035.4:p.Gly729Arg
ENST00000263035.8:c.2185G>A ENSP00000263035.4:p.Gly729Arg
ENST00000448829.1:c.688G>A
NM_018706.6:c.2185G>A NP_061176.3:p.Gly729Arg
NM_018706.7:c.2185G>A MANE Select NP_061176.4:p.Gly729Arg
Search 100 bp 5'
Search 100 bp 3'