Canonical Allele Identifier: CA2459737466
Gene: HPRT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475374T= , CM000685.2:g.134475374T= GRCh38
NC_000023.10:g.133609404T= , CM000685.1:g.133609404T= GRCh37
NC_000023.9:g.133437070T= NCBI36
NG_012329.1:g.20230T=
NG_012329.2:g.20230T=

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.318+10T= MANE Select ENSP00000298556.7:n.318+10T=
ENST00000298556.7:c.318+10T= ENSP00000298556.7:n.318+10T=
ENST00000462974.5:n.476+10T=
ENST00000475720.1:n.276+10T=
NM_000194.2:c.318+10T= NP_000185.1:n.318+10T=
XM_011531328.1:c.336+10T= XP_011529630.1:n.336+10T=
NM_000194.3:c.318+10T= MANE Select NP_000185.1:n.318+10T=