Canonical Allele Identifier: CA518652792
Gene: HPRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.133609229A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475199A>G , CM000685.2:g.134475199A>G GRCh38
NC_000023.10:g.133609229A>G , CM000685.1:g.133609229A>G GRCh37
NC_000023.9:g.133436895A>G NCBI36
NG_012329.1:g.20055A>G
NG_012329.2:g.20055A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298556.8:c.153A>G MANE Select ENSP00000298556.7:p.Arg51=
ENST00000298556.7:c.153A>G ENSP00000298556.7:p.Arg51=
ENST00000462974.5:n.311A>G
ENST00000475720.1:n.111A>G
NM_000194.2:c.153A>G NP_000185.1:p.Arg51=
XM_011531328.1:c.171A>G XP_011529630.1:p.Arg57=
NM_000194.3:c.153A>G MANE Select NP_000185.1:p.Arg51=