Canonical Allele Identifier: CA202555430
Gene: DHTKD1 HGNC NCBI

Linked Data

dbSNP Id: rs376901592
gnomAD v2: 10-12149912-G-A
gnomAD v3: 10-12107913-G-A
gnomAD v4: 10-12107913-G-A
MyVariant Identifiers: chr10:g.12149912G>A (hg19) chr10:g.12107913G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12107913G>A , CM000672.2:g.12107913G>A GRCh38
NC_000010.10:g.12149912G>A , CM000672.1:g.12149912G>A GRCh37
NC_000010.9:g.12189918G>A NCBI36
NG_033248.1:g.43997G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263035.9:c.2052G>A MANE Select ENSP00000263035.4:p.Glu684=
ENST00000263035.8:c.2052G>A ENSP00000263035.4:p.Glu684=
ENST00000448829.1:c.555G>A
NM_018706.6:c.2052G>A NP_061176.3:p.Glu684=
NM_018706.7:c.2052G>A MANE Select NP_061176.4:p.Glu684=
Search 100 bp 5'
Search 100 bp 3'