Canonical Allele Identifier: CA660765654
Gene: DHTKD1 HGNC NCBI

Linked Data

dbSNP Id: rs1279802560
gnomAD v3: 10-12107878-A-G
gnomAD v4: 10-12107878-A-G
MyVariant Identifiers: chr10:g.12149877A>G (hg19) chr10:g.12107878A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12107878A>G , CM000672.2:g.12107878A>G GRCh38
NC_000010.10:g.12149877A>G , CM000672.1:g.12149877A>G GRCh37
NC_000010.9:g.12189883A>G NCBI36
NG_033248.1:g.43962A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263035.9:c.2048-31A>G MANE Select ENSP00000263035.4:n.2048-31A>G
ENST00000263035.8:c.2048-31A>G ENSP00000263035.4:n.2048-31A>G
ENST00000448829.1:c.551-31A>G
NM_018706.6:c.2048-31A>G NP_061176.3:n.2048-31A>G
NM_018706.7:c.2048-31A>G MANE Select NP_061176.4:n.2048-31A>G
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