Canonical Allele Identifier: CA387013811

Gene: HPD

Linked Data

• MyVariant Identifiers: chr12:g.122285023A>C (hg19) ; chr12:g.121847117A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121847117A>C , CM000674.2:g.121847117A>C	GRCh38
NC_000012.11:g.122285023A>C , CM000674.1:g.122285023A>C	GRCh37
NC_000012.10:g.120769406A>C	NCBI36
NG_016461.1:g.46495T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000289004.8:c.694T>G MANE Select	ENSP00000289004.4:p.Tyr232Asp
ENST00000543163.5:c.577T>G	ENSP00000441677.1:p.Tyr193Asp
NM_001171993.1:c.577T>G	NP_001165464.1:p.Tyr193Asp
NM_002150.2:c.694T>G	NP_002141.1:p.Tyr232Asp
NM_002150.3:c.694T>G MANE Select	NP_002141.2:p.Tyr232Asp
NM_001171993.2:c.577T>G	NP_001165464.1:p.Tyr193Asp