Canonical Allele Identifier: CA10654487
Gene: HPD HGNC NCBI
TIALD HGNC NCBI

Linked Data

ClinVar Variation Id: 368982
ClinVar RCV Id: RCV000262818 RCV000355370 RCV001712173
dbSNP Id: rs3741591
gnomAD v2: 12-122296784-C-T
gnomAD v3: 12-121858878-C-T
gnomAD v4: 12-121858878-C-T
MyVariant Identifiers: chr12:g.122296784C>T (hg19) chr12:g.121858878C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121858878C>T , CM000674.2:g.121858878C>T GRCh38
NC_000012.11:g.122296784C>T , CM000674.1:g.122296784C>T GRCh37
NC_000012.10:g.120781167C>T NCBI36
NG_016461.1:g.34734G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000543163.5:c.-115+47G>A (HPD) ENSP00000441677.1:n.-115+47G>A
NM_001171993.1:c.-115+47G>A (HPD) NP_001165464.1:n.-115+47G>A
XR_945467.1:n.89+1040C>T (TIALD)
XR_002957437.1:n.543+1040C>T (TIALD)
NM_001171993.2:c.-115+47G>A (HPD) NP_001165464.1:n.-115+47G>A
Search 100 bp 5'
Search 100 bp 3'