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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:
CA115059
Gene: HPD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1574
ClinVar RCV Id:
RCV000001640
dbSNP Id:
rs137852866
MyVariant Identifiers:
chr12:g.122284825A>C (hg19)
chr12:g.121846919A>C (hg38)
PubMed:
PMID:10942115
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.121846919A>C , CM000674.2:g.121846919A>C
GRCh38
NC_000012.11:g.122284825A>C , CM000674.1:g.122284825A>C
GRCh37
NC_000012.10:g.120769208A>C
NCBI36
NG_016461.1:g.46693T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000289004.8:c.774T>G
MANE Select
ENSP00000289004.4:p.Tyr258Ter
ENST00000543163.5:c.657T>G
ENSP00000441677.1:p.Tyr219Ter
NM_001171993.1:c.657T>G
NP_001165464.1:p.Tyr219Ter
NM_002150.2:c.774T>G
NP_002141.1:p.Tyr258Ter
NM_002150.3:c.774T>G
MANE Select
NP_002141.2:p.Tyr258Ter
NM_001171993.2:c.657T>G
NP_001165464.1:p.Tyr219Ter
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