Canonical Allele Identifier: CA387013872
Gene: HPD HGNC NCBI

Linked Data

ClinVar Variation Id: 1055324
ClinVar RCV Id: RCV001363972
dbSNP Id: rs2137616170
gnomAD v4: 12-121847123-C-T
MyVariant Identifiers: chr12:g.122285029C>T (hg19) chr12:g.121847123C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121847123C>T , CM000674.2:g.121847123C>T GRCh38
NC_000012.11:g.122285029C>T , CM000674.1:g.122285029C>T GRCh37
NC_000012.10:g.120769412C>T NCBI36
NG_016461.1:g.46489G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000289004.8:c.688G>A MANE Select ENSP00000289004.4:p.Ala230Thr
ENST00000543163.5:c.571G>A ENSP00000441677.1:p.Ala191Thr
NM_001171993.1:c.571G>A NP_001165464.1:p.Ala191Thr
NM_002150.2:c.688G>A NP_002141.1:p.Ala230Thr
NM_002150.3:c.688G>A MANE Select NP_002141.2:p.Ala230Thr
NM_001171993.2:c.571G>A NP_001165464.1:p.Ala191Thr
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