Canonical Allele Identifier: CA5407740
Gene: DHTKD1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.12091604T>C
GRCh37 chr10:g.12133603T>C
Revel Score:
ENST00000263035 (MANE Select) 0.693
ENST00000437298 0.693
ENST00000415935 0.693
gnomAD v2:
10:12133603 T / C
gnomAD v3:
10:12091604 T / C
gnomAD v4:
chr10-12091604-T-C
Joint Max Group AF 0.00707541 (NFE)
Genomes Max Group AF 0.00597288 (NFE)
Exomes Max Group AF 0.00711603 (NFE)
ClinVar Allele:
361490
ClinVar RCV:
RCV000415736
RCV001085877
RCV003970097
ClinVar Variation:
374604
dbSNP:
147571909
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12091604T>C , CM000672.2:g.12091604T>C GRCh38
NC_000010.10:g.12133603T>C , CM000672.1:g.12133603T>C GRCh37
NC_000010.9:g.12173609T>C NCBI36
NG_033248.1:g.27688T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263035.9:c.1079T>C MANE Select ENSP00000263035.4:p.Val360Ala
ENST00000263035.8:c.1079T>C ENSP00000263035.4:p.Val360Ala
ENST00000415935.1:c.173T>C ENSP00000400625.1:p.Val58Ala
ENST00000437298.1:c.884T>C ENSP00000388163.1:p.Val295Ala
ENST00000465617.1:n.300-2469T>C
NM_018706.6:c.1079T>C NP_061176.3:p.Val360Ala
NM_018706.7:c.1079T>C MANE Select NP_061176.4:p.Val360Ala
Search 100 bp 5'
Search 100 bp 3'