Canonical Allele Identifier: CA6839486

Gene: HPD

Linked Data

• ClinVar Variation Id: 307480
• ClinVar RCV Id: RCV000297722 ; RCV000400625 ; RCV001859837 ; RCV001764274
• dbSNP Id: rs200010805
• ExAC: 12:122281656 G / A
• gnomAD v2: 12-122281656-G-A
• gnomAD v3: 12-121843750-G-A
• gnomAD v4: 12-121843750-G-A
• MyVariant Identifiers: chr12:g.122281656G>A (hg19) ; chr12:g.121843750G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121843750G>A , CM000674.2:g.121843750G>A	GRCh38
NC_000012.11:g.122281656G>A , CM000674.1:g.122281656G>A	GRCh37
NC_000012.10:g.120766039G>A	NCBI36
NG_016461.1:g.49862C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.914C>T MANE Select	ENSP00000289004.4:p.Thr305Met
ENST00000543163.5:c.797C>T	ENSP00000441677.1:p.Thr266Met
NM_001171993.1:c.797C>T	NP_001165464.1:p.Thr266Met
NM_002150.2:c.914C>T	NP_002141.1:p.Thr305Met
NM_002150.3:c.914C>T MANE Select	NP_002141.2:p.Thr305Met
NM_001171993.2:c.797C>T	NP_001165464.1:p.Thr266Met