Canonical Allele Identifier: CA2840291877
Gene: HPRT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475155T>A , CM000685.2:g.134475155T>A GRCh38
NC_000023.10:g.133609185T>A , CM000685.1:g.133609185T>A GRCh37
NC_000023.9:g.133436851T>A NCBI36
NG_012329.1:g.20011T>A
NG_012329.2:g.20011T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298556.8:c.135-26T>A MANE Select ENSP00000298556.7:n.135-26T>A
ENST00000298556.7:c.135-26T>A ENSP00000298556.7:n.135-26T>A
ENST00000462974.5:n.293-26T>A
ENST00000475720.1:n.93-26T>A
NM_000194.2:c.135-26T>A NP_000185.1:n.135-26T>A
XM_011531328.1:c.153-26T>A XP_011529630.1:n.153-26T>A
NM_000194.3:c.135-26T>A MANE Select NP_000185.1:n.135-26T>A