Canonical Allele Identifier: CA234123
Gene: HPRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167182
ClinVar RCV Id: RCV000153368
dbSNP Id: rs727503964
MyVariant Identifiers: chrX:g.133632468T>G (hg19) chrX:g.134498438T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134498438T>G , CM000685.2:g.134498438T>G GRCh38
NC_000023.10:g.133632468T>G , CM000685.1:g.133632468T>G GRCh37
NC_000023.9:g.133460134T>G NCBI36
NG_012329.1:g.43294T>G
NG_012329.2:g.43294T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.532+2T>G MANE Select ENSP00000298556.7:n.532+2T>G
ENST00000298556.7:c.532+2T>G ENSP00000298556.7:n.532+2T>G
ENST00000462974.5:n.690+2T>G
ENST00000475720.1:n.490+2T>G
NM_000194.2:c.532+2T>G NP_000185.1:n.532+2T>G
XM_011531328.1:c.550+2T>G XP_011529630.1:n.550+2T>G
NM_000194.3:c.532+2T>G MANE Select NP_000185.1:n.532+2T>G
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