Canonical Allele Identifier: CA202555239
Gene: DHTKD1 HGNC NCBI

Linked Data

dbSNP Id: rs369613985

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12107847C>T , CM000672.2:g.12107847C>T GRCh38
NC_000010.10:g.12149846C>T , CM000672.1:g.12149846C>T GRCh37
NC_000010.9:g.12189852C>T NCBI36
NG_033248.1:g.43931C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263035.9:c.2048-62C>T MANE Select ENSP00000263035.4:n.2048-62C>T
ENST00000263035.8:c.2048-62C>T ENSP00000263035.4:n.2048-62C>T
ENST00000448829.1:c.551-62C>T
NM_018706.6:c.2048-62C>T NP_061176.3:n.2048-62C>T
NM_018706.7:c.2048-62C>T MANE Select NP_061176.4:n.2048-62C>T