Canonical Allele Identifier: CA468219592
Gene: DHTKD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.12149909A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12107910A>C , CM000672.2:g.12107910A>C GRCh38
NC_000010.10:g.12149909A>C , CM000672.1:g.12149909A>C GRCh37
NC_000010.9:g.12189915A>C NCBI36
NG_033248.1:g.43994A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263035.9:c.2049A>C MANE Select ENSP00000263035.4:p.Gly683=
ENST00000263035.8:c.2049A>C ENSP00000263035.4:p.Gly683=
ENST00000448829.1:c.552A>C
NM_018706.6:c.2049A>C NP_061176.3:p.Gly683=
NM_018706.7:c.2049A>C MANE Select NP_061176.4:p.Gly683=
Search 100 bp 5'
Search 100 bp 3'