Canonical Allele Identifier: CA5408052
Gene: DHTKD1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.12101157C>T
GRCh37 chr10:g.12143156C>T
Revel Score:
ENST00000448829 0.062
gnomAD v2:
10:12143156 C / T
gnomAD v4:
chr10-12101157-C-T
Joint Max Group AF 0.00001376 (NFE)
Exomes Max Group AF 0.0000146 (NFE)
ClinVar RCV:
RCV002643349
ClinVar Variation:
1941857
dbSNP:
755679956
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12101157C>T , CM000672.2:g.12101157C>T GRCh38
NC_000010.10:g.12143156C>T , CM000672.1:g.12143156C>T GRCh37
NC_000010.9:g.12183162C>T NCBI36
NG_033248.1:g.37241C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263035.9:c.1872C>T MANE Select ENSP00000263035.4:p.Asp624=
ENST00000263035.8:c.1872C>T ENSP00000263035.4:p.Asp624=
ENST00000448829.1:c.526C>T
NM_018706.6:c.1872C>T NP_061176.3:p.Asp624=
NM_018706.7:c.1872C>T MANE Select NP_061176.4:p.Asp624=
Search 100 bp 5'
Search 100 bp 3'