Canonical Allele Identifier: CA376013406
Gene: DHTKD1 HGNC NCBI

Linked Data

gnomAD v4: 10-12112931-G-A
MyVariant Identifiers: chr10:g.12154930G>A (hg19) chr10:g.12112931G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12112931G>A , CM000672.2:g.12112931G>A GRCh38
NC_000010.10:g.12154930G>A , CM000672.1:g.12154930G>A GRCh37
NC_000010.9:g.12194936G>A NCBI36
NG_033248.1:g.49015G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263035.9:c.2186G>A MANE Select ENSP00000263035.4:p.Gly729Glu
ENST00000263035.8:c.2186G>A ENSP00000263035.4:p.Gly729Glu
ENST00000448829.1:c.689G>A
NM_018706.6:c.2186G>A NP_061176.3:p.Gly729Glu
NM_018706.7:c.2186G>A MANE Select NP_061176.4:p.Gly729Glu
Search 100 bp 5'
Search 100 bp 3'