Canonical Allele Identifier: CA120900
Gene: HPRT1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 10045
dbSNP Id: rs137852488

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475257G>C , CM000685.2:g.134475257G>C GRCh38
NC_000023.10:g.133609287G>C , CM000685.1:g.133609287G>C GRCh37
NC_000023.9:g.133436953G>C NCBI36
NG_012329.1:g.20113G>C
NG_012329.2:g.20113G>C

Transcript Alleles

HGVS Amino-acid change
NM_000194.2:c.211G>C VV NP_000185.1:p.Gly71Arg
XM_011531328.1:c.229G>C XP_011529630.1:p.Gly77Arg
NM_000194.3:c.211G>C VV MANE Preferred NP_000185.1:p.Gly71Arg
ENST00000298556.7:c.211G>C ENSP00000298556.7:p.Gly71Arg
ENST00000462974.5:n.369G>C
ENST00000475720.1:n.169G>C