Canonical Allele Identifier: CA2573718229
Gene: DHTKD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12107802T>C , CM000672.2:g.12107802T>C GRCh38
NC_000010.10:g.12149801T>C , CM000672.1:g.12149801T>C GRCh37
NC_000010.9:g.12189807T>C NCBI36
NG_033248.1:g.43886T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263035.9:c.2048-107T>C MANE Select ENSP00000263035.4:n.2048-107T>C
ENST00000263035.8:c.2048-107T>C ENSP00000263035.4:n.2048-107T>C
ENST00000448829.1:c.551-107T>C
NM_018706.6:c.2048-107T>C NP_061176.3:n.2048-107T>C
NM_018706.7:c.2048-107T>C MANE Select NP_061176.4:n.2048-107T>C
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