Canonical Allele Identifier: CA376013434
Gene: DHTKD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12112944C>A , CM000672.2:g.12112944C>A GRCh38
NC_000010.10:g.12154943C>A , CM000672.1:g.12154943C>A GRCh37
NC_000010.9:g.12194949C>A NCBI36
NG_033248.1:g.49028C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263035.9:c.2199C>A MANE Select ENSP00000263035.4:p.Asn733Lys
ENST00000263035.8:c.2199C>A ENSP00000263035.4:p.Asn733Lys
ENST00000448829.1:c.702C>A
NM_018706.6:c.2199C>A NP_061176.3:p.Asn733Lys
NM_018706.7:c.2199C>A MANE Select NP_061176.4:p.Asn733Lys