Canonical Allele Identifier: CA115056

Gene: HPD

Linked Data

• ClinVar Variation Id: 1573
• ClinVar RCV Id: RCV000001639 ; RCV001297386 ; RCV001731268
• dbSNP Id: rs137852865
• ExAC: 12:122287632 T / C
• gnomAD v2: 12-122287632-T-C
• gnomAD v3: 12-121849726-T-C
• gnomAD v4: 12-121849726-T-C
• MyVariant Identifiers: chr12:g.122287632T>C (hg19) ; chr12:g.121849726T>C (hg38)
• PubMed: PMID:10942115

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121849726T>C , CM000674.2:g.121849726T>C	GRCh38
NC_000012.11:g.122287632T>C , CM000674.1:g.122287632T>C	GRCh37
NC_000012.10:g.120772015T>C	NCBI36
NG_016461.1:g.43886A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.479A>G MANE Select	ENSP00000289004.4:p.Tyr160Cys
ENST00000542159.2:n.663A>G
ENST00000543163.5:c.362A>G	ENSP00000441677.1:p.Tyr121Cys
NM_001171993.1:c.362A>G	NP_001165464.1:p.Tyr121Cys
NM_002150.2:c.479A>G	NP_002141.1:p.Tyr160Cys
NM_002150.3:c.479A>G MANE Select	NP_002141.2:p.Tyr160Cys
NM_001171993.2:c.362A>G	NP_001165464.1:p.Tyr121Cys