Canonical Allele Identifier: CA387013870

Gene: HPD

Linked Data

• gnomAD v4: 12-121847123-C-A
• MyVariant Identifiers: chr12:g.122285029C>A (hg19) ; chr12:g.121847123C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121847123C>A , CM000674.2:g.121847123C>A	GRCh38
NC_000012.11:g.122285029C>A , CM000674.1:g.122285029C>A	GRCh37
NC_000012.10:g.120769412C>A	NCBI36
NG_016461.1:g.46489G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000289004.8:c.688G>T MANE Select	ENSP00000289004.4:p.Ala230Ser
ENST00000543163.5:c.571G>T	ENSP00000441677.1:p.Ala191Ser
NM_001171993.1:c.571G>T	NP_001165464.1:p.Ala191Ser
NM_002150.2:c.688G>T	NP_002141.1:p.Ala230Ser
NM_002150.3:c.688G>T MANE Select	NP_002141.2:p.Ala230Ser
NM_001171993.2:c.571G>T	NP_001165464.1:p.Ala191Ser