Canonical Allele Identifier: CA2574503494
Gene: DHTKD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12107850G>A , CM000672.2:g.12107850G>A GRCh38
NC_000010.10:g.12149849G>A , CM000672.1:g.12149849G>A GRCh37
NC_000010.9:g.12189855G>A NCBI36
NG_033248.1:g.43934G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263035.9:c.2048-59G>A MANE Select ENSP00000263035.4:n.2048-59G>A
ENST00000263035.8:c.2048-59G>A ENSP00000263035.4:n.2048-59G>A
ENST00000448829.1:c.551-59G>A
NM_018706.6:c.2048-59G>A NP_061176.3:n.2048-59G>A
NM_018706.7:c.2048-59G>A MANE Select NP_061176.4:n.2048-59G>A
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