Canonical Allele Identifier: CA518652828
Gene: HPRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1918043
ClinVar RCV Id: RCV002601767
MyVariant Identifiers: chrX:g.133609280C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475250C>G , CM000685.2:g.134475250C>G GRCh38
NC_000023.10:g.133609280C>G , CM000685.1:g.133609280C>G GRCh37
NC_000023.9:g.133436946C>G NCBI36
NG_012329.1:g.20106C>G
NG_012329.2:g.20106C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.204C>G MANE Select ENSP00000298556.7:p.Leu68=
ENST00000298556.7:c.204C>G ENSP00000298556.7:p.Leu68=
ENST00000462974.5:n.362C>G
ENST00000475720.1:n.162C>G
NM_000194.2:c.204C>G NP_000185.1:p.Leu68=
XM_011531328.1:c.222C>G XP_011529630.1:p.Leu74=
NM_000194.3:c.204C>G MANE Select NP_000185.1:p.Leu68=
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