×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA387013782
Gene: HPD
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr12:g.122285018T>A (hg19)
chr12:g.121847112T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.121847112T>A , CM000674.2:g.121847112T>A
GRCh38
NC_000012.11:g.122285018T>A , CM000674.1:g.122285018T>A
GRCh37
NC_000012.10:g.120769401T>A
NCBI36
NG_016461.1:g.46500A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000289004.8:c.699A>T
MANE Select
ENSP00000289004.4:p.Glu233Asp
ENST00000543163.5:c.582A>T
ENSP00000441677.1:p.Glu194Asp
NM_001171993.1:c.582A>T
NP_001165464.1:p.Glu194Asp
NM_002150.2:c.699A>T
NP_002141.1:p.Glu233Asp
NM_002150.3:c.699A>T
MANE Select
NP_002141.2:p.Glu233Asp
NM_001171993.2:c.582A>T
NP_001165464.1:p.Glu194Asp
Search 100 bp 5'
Search 100 bp 3'