Canonical Allele Identifier: CA120914
Gene: HPRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10082
dbSNP Id: rs137852505

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134493564T>G , CM000685.2:g.134493564T>G GRCh38
NC_000023.10:g.133627594T>G , CM000685.1:g.133627594T>G GRCh37
NC_000023.9:g.133455260T>G NCBI36
NG_012329.1:g.38420T>G
NG_012329.2:g.38420T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298556.8:c.459T>G MANE Select ENSP00000298556.7:p.Tyr153Ter
ENST00000298556.7:c.459T>G ENSP00000298556.7:p.Tyr153Ter
ENST00000462974.5:n.617T>G
ENST00000475720.1:n.417T>G
NM_000194.2:c.459T>G NP_000185.1:p.Tyr153Ter
XM_011531328.1:c.477T>G XP_011529630.1:p.Tyr159Ter
NM_000194.3:c.459T>G MANE Select NP_000185.1:p.Tyr153Ter