Canonical Allele Identifier: CA115062

Gene: HPD

Linked Data

• ClinVar Variation Id: 1575
• ClinVar RCV Id: RCV000001641
• dbSNP Id: rs137852867
• ExAC: 12:122285117 G / C
• gnomAD v2: 12-122285117-G-C
• gnomAD v3: 12-121847211-G-C
• gnomAD v4: 12-121847211-G-C
• MyVariant Identifiers: chr12:g.122285117G>C (hg19) ; chr12:g.121847211G>C (hg38)
• PubMed: PMID:9343288 ; PMID:10942115

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121847211G>C , CM000674.2:g.121847211G>C	GRCh38
NC_000012.11:g.122285117G>C , CM000674.1:g.122285117G>C	GRCh37
NC_000012.10:g.120769500G>C	NCBI36
NG_016461.1:g.46401C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.600C>G MANE Select	ENSP00000289004.4:p.Tyr200Ter
ENST00000543163.5:c.483C>G	ENSP00000441677.1:p.Tyr161Ter
NM_001171993.1:c.483C>G	NP_001165464.1:p.Tyr161Ter
NM_002150.2:c.600C>G	NP_002141.1:p.Tyr200Ter
NM_002150.3:c.600C>G MANE Select	NP_002141.2:p.Tyr200Ter
NM_001171993.2:c.483C>G	NP_001165464.1:p.Tyr161Ter