Canonical Allele Identifier: CA1231230
Gene: DPT HGNC NCBI

Linked Data

ClinVar Variation Id: 224834
ClinVar RCV Id: RCV000416574
dbSNP Id: rs748718975
ExAC: 1:168665849 G / A
gnomAD v2: 1-168665849-G-A
gnomAD v3: 1-168696611-G-A
gnomAD v4: 1-168696611-G-A
MyVariant Identifiers: chr1:g.168665849G>A (hg19) chr1:g.168696611G>A (hg38)
PubMed: PMID:27876815
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168696611G>A , CM000663.2:g.168696611G>A GRCh38
NC_000001.10:g.168665849G>A , CM000663.1:g.168665849G>A GRCh37
NC_000001.9:g.166932473G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367817.4:c.544C>T MANE Select ENSP00000356791.3:p.Arg182Cys
ENST00000367817.3:c.544C>T ENSP00000356791.3:p.Arg182Cys
NM_001937.4:c.544C>T NP_001928.2:p.Arg182Cys
NM_001937.5:c.544C>T MANE Select NP_001928.2:p.Arg182Cys
Search 100 bp 5'
Search 100 bp 3'