Canonical Allele Identifier: CA591543133
Gene: DHTKD1 HGNC NCBI

Linked Data

dbSNP Id: rs1380452354
gnomAD v2: 10-12149894-T-G
MyVariant Identifiers: chr10:g.12149894T>G (hg19) chr10:g.12107895T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12107895T>G , CM000672.2:g.12107895T>G GRCh38
NC_000010.10:g.12149894T>G , CM000672.1:g.12149894T>G GRCh37
NC_000010.9:g.12189900T>G NCBI36
NG_033248.1:g.43979T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263035.9:c.2048-14T>G MANE Select ENSP00000263035.4:n.2048-14T>G
ENST00000263035.8:c.2048-14T>G ENSP00000263035.4:n.2048-14T>G
ENST00000448829.1:c.551-14T>G
NM_018706.6:c.2048-14T>G NP_061176.3:n.2048-14T>G
NM_018706.7:c.2048-14T>G MANE Select NP_061176.4:n.2048-14T>G
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