Canonical Allele Identifier: CA468220176
Gene: DHTKD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.12154937T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12112938T>G , CM000672.2:g.12112938T>G GRCh38
NC_000010.10:g.12154937T>G , CM000672.1:g.12154937T>G GRCh37
NC_000010.9:g.12194943T>G NCBI36
NG_033248.1:g.49022T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000263035.9:c.2193T>G MANE Select ENSP00000263035.4:p.Thr731=
ENST00000263035.8:c.2193T>G ENSP00000263035.4:p.Thr731=
ENST00000448829.1:c.696T>G
NM_018706.6:c.2193T>G NP_061176.3:p.Thr731=
NM_018706.7:c.2193T>G MANE Select NP_061176.4:p.Thr731=
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