Canonical Allele Identifier: CA6839638

Gene: HPD

Linked Data

• ClinVar Variation Id: 307484
• ClinVar RCV Id: RCV000270114 ; RCV000362382 ; RCV000967705
• dbSNP Id: rs149081239
• ExAC: 12:122287613 C / T
• gnomAD v2: 12-122287613-C-T
• gnomAD v3: 12-121849707-C-T
• gnomAD v4: 12-121849707-C-T
• MyVariant Identifiers: chr12:g.122287613C>T (hg19) ; chr12:g.121849707C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121849707C>T , CM000674.2:g.121849707C>T	GRCh38
NC_000012.11:g.122287613C>T , CM000674.1:g.122287613C>T	GRCh37
NC_000012.10:g.120771996C>T	NCBI36
NG_016461.1:g.43905G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.498G>A MANE Select	ENSP00000289004.4:p.Met166Ile
ENST00000542159.2:n.682G>A
ENST00000543163.5:c.381G>A	ENSP00000441677.1:p.Met127Ile
NM_001171993.1:c.381G>A	NP_001165464.1:p.Met127Ile
NM_002150.2:c.498G>A	NP_002141.1:p.Met166Ile
NM_002150.3:c.498G>A MANE Select	NP_002141.2:p.Met166Ile
NM_001171993.2:c.381G>A	NP_001165464.1:p.Met127Ile