Canonical Allele Identifier: CA2573718232

Gene: DHTKD1

Linked Data

• gnomAD v4: 10-12107837-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.12107837C>T , CM000672.2:g.12107837C>T	GRCh38
NC_000010.10:g.12149836C>T , CM000672.1:g.12149836C>T	GRCh37
NC_000010.9:g.12189842C>T	NCBI36
NG_033248.1:g.43921C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263035.9:c.2048-72C>T MANE Select	ENSP00000263035.4:n.2048-72C>T
ENST00000263035.8:c.2048-72C>T	ENSP00000263035.4:n.2048-72C>T
ENST00000448829.1:c.551-72C>T
NM_018706.6:c.2048-72C>T	NP_061176.3:n.2048-72C>T
NM_018706.7:c.2048-72C>T MANE Select	NP_061176.4:n.2048-72C>T