Canonical Allele Identifier: CA115065

Gene: HPD

Linked Data

• ClinVar Variation Id: 1576
• ClinVar RCV Id: RCV000001642 ; RCV000386406 ; RCV000953322 ; RCV001091863 ; RCV003964786 ; RCV003488319
• dbSNP Id: rs137852868
• ExAC: 12:122277904 G / C
• gnomAD v2: 12-122277904-G-C
• gnomAD v3: 12-121839998-G-C
• gnomAD v4: 12-121839998-G-C
• MyVariant Identifiers: chr12:g.122277904G>C (hg19) ; chr12:g.121839998G>C (hg38)
• PubMed: PMID:10942115

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121839998G>C , CM000674.2:g.121839998G>C	GRCh38
NC_000012.11:g.122277904G>C , CM000674.1:g.122277904G>C	GRCh37
NC_000012.10:g.120762287G>C	NCBI36
NG_016461.1:g.53614C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.1005C>G MANE Select	ENSP00000289004.4:p.Ile335Met
ENST00000543163.5:c.888C>G	ENSP00000441677.1:p.Ile296Met
NM_001171993.1:c.888C>G	NP_001165464.1:p.Ile296Met
NM_002150.2:c.1005C>G	NP_002141.1:p.Ile335Met
NM_002150.3:c.1005C>G MANE Select	NP_002141.2:p.Ile335Met
NM_001171993.2:c.888C>G	NP_001165464.1:p.Ile296Met