Canonical Allele Identifier: CA6839503

Gene: HPD

Linked Data

• ClinVar Variation Id: 307482
• ClinVar RCV Id: RCV000301673 ; RCV000358858 ; RCV002522222
• dbSNP Id: rs140144597
• ExAC: 12:122281734 C / T
• gnomAD v2: 12-122281734-C-T
• gnomAD v3: 12-121843828-C-T
• gnomAD v4: 12-121843828-C-T
• COSMIC: COSM1322698
• MyVariant Identifiers: chr12:g.122281734C>T (hg19) ; chr12:g.121843828C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121843828C>T , CM000674.2:g.121843828C>T	GRCh38
NC_000012.11:g.122281734C>T , CM000674.1:g.122281734C>T	GRCh37
NC_000012.10:g.120766117C>T	NCBI36
NG_016461.1:g.49784G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.836G>A MANE Select	ENSP00000289004.4:p.Arg279His
ENST00000543163.5:c.719G>A	ENSP00000441677.1:p.Arg240His
NM_001171993.1:c.719G>A	NP_001165464.1:p.Arg240His
NM_002150.2:c.836G>A	NP_002141.1:p.Arg279His
NM_002150.3:c.836G>A MANE Select	NP_002141.2:p.Arg279His
NM_001171993.2:c.719G>A	NP_001165464.1:p.Arg240His