Canonical Allele Identifier: CA6839538

Gene: HPD

Linked Data

• ClinVar Variation Id: 307483
• ClinVar RCV Id: RCV000266360 ; RCV000305079 ; RCV003765806
• dbSNP Id: rs767720774
• ExAC: 12:122284834 A / G
• gnomAD v2: 12-122284834-A-G
• gnomAD v3: 12-121846928-A-G
• gnomAD v4: 12-121846928-A-G
• MyVariant Identifiers: chr12:g.122284834A>G (hg19) ; chr12:g.121846928A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121846928A>G , CM000674.2:g.121846928A>G	GRCh38
NC_000012.11:g.122284834A>G , CM000674.1:g.122284834A>G	GRCh37
NC_000012.10:g.120769217A>G	NCBI36
NG_016461.1:g.46684T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.765T>C MANE Select	ENSP00000289004.4:p.Tyr255=
ENST00000543163.5:c.648T>C	ENSP00000441677.1:p.Tyr216=
NM_001171993.1:c.648T>C	NP_001165464.1:p.Tyr216=
NM_002150.2:c.765T>C	NP_002141.1:p.Tyr255=
NM_002150.3:c.765T>C MANE Select	NP_002141.2:p.Tyr255=
NM_001171993.2:c.648T>C	NP_001165464.1:p.Tyr216=