Canonical Allele Identifier: CA120906
Gene: HPRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10074
dbSNP Id: rs137852499

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134473377G>A , CM000685.2:g.134473377G>A GRCh38
NC_000023.10:g.133607407G>A , CM000685.1:g.133607407G>A GRCh37
NC_000023.9:g.133435073G>A NCBI36
NG_012329.1:g.18233G>A
NG_012329.2:g.18233G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.46G>A MANE Select ENSP00000298556.7:p.Gly16Ser
ENST00000298556.7:c.46G>A ENSP00000298556.7:p.Gly16Ser
ENST00000462974.5:n.204G>A
ENST00000475720.1:n.4G>A
NM_000194.2:c.46G>A NP_000185.1:p.Gly16Ser
XM_011531328.1:c.64G>A XP_011529630.1:p.Gly22Ser
NM_000194.3:c.46G>A MANE Select NP_000185.1:p.Gly16Ser