Canonical Allele Identifier: CA376012109
Gene: DHTKD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12107908G>A , CM000672.2:g.12107908G>A GRCh38
NC_000010.10:g.12149907G>A , CM000672.1:g.12149907G>A GRCh37
NC_000010.9:g.12189913G>A NCBI36
NG_033248.1:g.43992G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263035.9:c.2048-1G>A MANE Select ENSP00000263035.4:n.2048-1G>A
ENST00000263035.8:c.2048-1G>A ENSP00000263035.4:n.2048-1G>A
ENST00000448829.1:c.551-1G>A
NM_018706.6:c.2048-1G>A NP_061176.3:n.2048-1G>A
NM_018706.7:c.2048-1G>A MANE Select NP_061176.4:n.2048-1G>A