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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:
CA120916
Gene: HPRT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10084
ClinVar RCV Id:
RCV000010796
dbSNP Id:
rs137852506
MyVariant Identifiers:
chrX:g.133609269C>T (hg19)
chrX:g.134475239C>T (hg38)
PubMed:
PMID:11891689
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.134475239C>T , CM000685.2:g.134475239C>T
GRCh38
NC_000023.10:g.133609269C>T , CM000685.1:g.133609269C>T
GRCh37
NC_000023.9:g.133436935C>T
NCBI36
NG_012329.1:g.20095C>T
NG_012329.2:g.20095C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000298556.8:c.193C>T
MANE Select
ENSP00000298556.7:p.Leu65Phe
ENST00000298556.7:c.193C>T
ENSP00000298556.7:p.Leu65Phe
ENST00000462974.5:n.351C>T
ENST00000475720.1:n.151C>T
NM_000194.2:c.193C>T
NP_000185.1:p.Leu65Phe
XM_011531328.1:c.211C>T
XP_011529630.1:p.Leu71Phe
NM_000194.3:c.193C>T
MANE Select
NP_000185.1:p.Leu65Phe
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