Canonical Allele Identifier: CA6839477

Gene: HPD

Linked Data

• ClinVar Variation Id: 307479
• ClinVar RCV Id: RCV000294352 ; RCV000351642 ; RCV002056272
• dbSNP Id: rs200866898
• ExAC: 12:122281602 T / G
• gnomAD v2: 12-122281602-T-G
• gnomAD v3: 12-121843696-T-G
• gnomAD v4: 12-121843696-T-G
• MyVariant Identifiers: chr12:g.122281602T>G (hg19) ; chr12:g.121843696T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121843696T>G , CM000674.2:g.121843696T>G	GRCh38
NC_000012.11:g.122281602T>G , CM000674.1:g.122281602T>G	GRCh37
NC_000012.10:g.120765985T>G	NCBI36
NG_016461.1:g.49916A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.954+14A>C MANE Select	ENSP00000289004.4:n.954+14A>C
ENST00000543163.5:c.837+14A>C	ENSP00000441677.1:n.837+14A>C
NM_001171993.1:c.837+14A>C	NP_001165464.1:n.837+14A>C
NM_002150.2:c.954+14A>C	NP_002141.1:n.954+14A>C
NM_002150.3:c.954+14A>C MANE Select	NP_002141.2:n.954+14A>C
NM_001171993.2:c.837+14A>C	NP_001165464.1:n.837+14A>C