Canonical Allele Identifier: CA2580081325
Gene: DHTKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12084759G>A , CM000672.2:g.12084759G>A GRCh38
NC_000010.10:g.12126758G>A , CM000672.1:g.12126758G>A GRCh37
NC_000010.9:g.12166764G>A NCBI36
NG_033248.1:g.20843G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263035.9:c.522+8G>A MANE Select ENSP00000263035.4:n.522+8G>A
ENST00000263035.8:c.522+8G>A ENSP00000263035.4:n.522+8G>A
ENST00000437298.1:c.522+8G>A ENSP00000388163.1:n.522+8G>A
ENST00000465617.1:n.105-2776G>A
NM_018706.6:c.522+8G>A NP_061176.3:n.522+8G>A
NM_018706.7:c.522+8G>A MANE Select NP_061176.4:n.522+8G>A