Canonical Allele Identifier: CA6839518

Gene: HPD

Linked Data

• dbSNP Id: rs779933779
• ExAC: 12:122284745 C / T
• gnomAD v2: 12-122284745-C-T
• gnomAD v3: 12-121846839-C-T
• gnomAD v4: 12-121846839-C-T
• MyVariant Identifiers: chr12:g.122284745C>T (hg19) ; chr12:g.121846839C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121846839C>T , CM000674.2:g.121846839C>T	GRCh38
NC_000012.11:g.122284745C>T , CM000674.1:g.122284745C>T	GRCh37
NC_000012.10:g.120769128C>T	NCBI36
NG_016461.1:g.46773G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.831+23G>A MANE Select	ENSP00000289004.4:n.831+23G>A
ENST00000543163.5:c.714+23G>A	ENSP00000441677.1:n.714+23G>A
NM_001171993.1:c.714+23G>A	NP_001165464.1:n.714+23G>A
NM_002150.2:c.831+23G>A	NP_002141.1:n.831+23G>A
NM_002150.3:c.831+23G>A MANE Select	NP_002141.2:n.831+23G>A
NM_001171993.2:c.714+23G>A	NP_001165464.1:n.714+23G>A