Canonical Allele Identifier: CA1890966267
Gene: DHTKD1 HGNC NCBI

Linked Data

dbSNP Id: rs72779653
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12107809G>C , CM000672.2:g.12107809G>C GRCh38
NC_000010.10:g.12149808G>C , CM000672.1:g.12149808G>C GRCh37
NC_000010.9:g.12189814G>C NCBI36
NG_033248.1:g.43893G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263035.9:c.2048-100G>C MANE Select ENSP00000263035.4:n.2048-100G>C
ENST00000263035.8:c.2048-100G>C ENSP00000263035.4:n.2048-100G>C
ENST00000448829.1:c.551-100G>C
NM_018706.6:c.2048-100G>C NP_061176.3:n.2048-100G>C
NM_018706.7:c.2048-100G>C MANE Select NP_061176.4:n.2048-100G>C
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