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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
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Canonical Allele Identifier:
CA387013018
Gene: HPD
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr12:g.122284839C>G (hg19)
chr12:g.121846933C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.121846933C>G , CM000674.2:g.121846933C>G
GRCh38
NC_000012.11:g.122284839C>G , CM000674.1:g.122284839C>G
GRCh37
NC_000012.10:g.120769222C>G
NCBI36
NG_016461.1:g.46679G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000289004.8:c.760G>C
MANE Select
ENSP00000289004.4:p.Glu254Gln
ENST00000543163.5:c.643G>C
ENSP00000441677.1:p.Glu215Gln
NM_001171993.1:c.643G>C
NP_001165464.1:p.Glu215Gln
NM_002150.2:c.760G>C
NP_002141.1:p.Glu254Gln
NM_002150.3:c.760G>C
MANE Select
NP_002141.2:p.Glu254Gln
NM_001171993.2:c.643G>C
NP_001165464.1:p.Glu215Gln
Search 100 bp 5'
Search 100 bp 3'