Canonical Allele Identifier: CA6839542

Gene: HPD

Linked Data

• dbSNP Id: rs773372543
• ExAC: 12:122284861 A / G
• gnomAD v2: 12-122284861-A-G
• gnomAD v4: 12-121846955-A-G
• MyVariant Identifiers: chr12:g.122284861A>G (hg19) ; chr12:g.121846955A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121846955A>G , CM000674.2:g.121846955A>G	GRCh38
NC_000012.11:g.122284861A>G , CM000674.1:g.122284861A>G	GRCh37
NC_000012.10:g.120769244A>G	NCBI36
NG_016461.1:g.46657T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.760-22T>C MANE Select	ENSP00000289004.4:n.760-22T>C
ENST00000543163.5:c.643-22T>C	ENSP00000441677.1:n.643-22T>C
NM_001171993.1:c.643-22T>C	NP_001165464.1:n.643-22T>C
NM_002150.2:c.760-22T>C	NP_002141.1:n.760-22T>C
NM_002150.3:c.760-22T>C MANE Select	NP_002141.2:n.760-22T>C
NM_001171993.2:c.643-22T>C	NP_001165464.1:n.643-22T>C