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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:
CA120905
Gene: HPRT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10073
ClinVar RCV Id:
RCV000010776
dbSNP Id:
rs137852498
MyVariant Identifiers:
chrX:g.133632437C>T (hg19)
chrX:g.134498407C>T (hg38)
PubMed:
PMID:2246854
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.134498407C>T , CM000685.2:g.134498407C>T
GRCh38
NC_000023.10:g.133632437C>T , CM000685.1:g.133632437C>T
GRCh37
NC_000023.9:g.133460103C>T
NCBI36
NG_012329.1:g.43263C>T
NG_012329.2:g.43263C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000298556.8:c.503C>T
MANE Select
ENSP00000298556.7:p.Thr168Ile
ENST00000298556.7:c.503C>T
ENSP00000298556.7:p.Thr168Ile
ENST00000462974.5:n.661C>T
ENST00000475720.1:n.461C>T
NM_000194.2:c.503C>T
NP_000185.1:p.Thr168Ile
XM_011531328.1:c.521C>T
XP_011529630.1:p.Thr174Ile
NM_000194.3:c.503C>T
MANE Select
NP_000185.1:p.Thr168Ile
Search 100 bp 5'
Search 100 bp 3'