Canonical Allele Identifier: CA202555431
Gene: DHTKD1 HGNC NCBI

Linked Data

dbSNP Id: rs376901592

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12107913G>C , CM000672.2:g.12107913G>C GRCh38
NC_000010.10:g.12149912G>C , CM000672.1:g.12149912G>C GRCh37
NC_000010.9:g.12189918G>C NCBI36
NG_033248.1:g.43997G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263035.9:c.2052G>C MANE Select ENSP00000263035.4:p.Glu684Asp
ENST00000263035.8:c.2052G>C ENSP00000263035.4:p.Glu684Asp
ENST00000448829.1:c.555G>C
NM_018706.6:c.2052G>C NP_061176.3:p.Glu684Asp
NM_018706.7:c.2052G>C MANE Select NP_061176.4:p.Glu684Asp