Canonical Allele Identifier: CA6839439

Gene: HPD

Linked Data

• ClinVar Variation Id: 307478
• ClinVar RCV Id: RCV000290396 ; RCV000530874 ; RCV001642958 ; RCV000382932
• dbSNP Id: rs36023382
• ExAC: 12:122277891 C / A
• gnomAD v2: 12-122277891-C-A
• gnomAD v3: 12-121839985-C-A
• gnomAD v4: 12-121839985-C-A
• MyVariant Identifiers: chr12:g.122277891C>A (hg19) ; chr12:g.121839985C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121839985C>A , CM000674.2:g.121839985C>A	GRCh38
NC_000012.11:g.122277891C>A , CM000674.1:g.122277891C>A	GRCh37
NC_000012.10:g.120762274C>A	NCBI36
NG_016461.1:g.53627G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.1018G>T MANE Select	ENSP00000289004.4:p.Val340Leu
ENST00000543163.5:c.901G>T	ENSP00000441677.1:p.Val301Leu
NM_001171993.1:c.901G>T	NP_001165464.1:p.Val301Leu
NM_002150.2:c.1018G>T	NP_002141.1:p.Val340Leu
NM_002150.3:c.1018G>T MANE Select	NP_002141.2:p.Val340Leu
NM_001171993.2:c.901G>T	NP_001165464.1:p.Val301Leu