Canonical Allele Identifier: CA2823682812

Gene: HPRT1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134475075T>A , CM000685.2:g.134475075T>A	GRCh38
NC_000023.10:g.133609105T>A , CM000685.1:g.133609105T>A	GRCh37
NC_000023.9:g.133436771T>A	NCBI36
NG_012329.1:g.19931T>A
NG_012329.2:g.19931T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298556.8:c.135-106T>A MANE Select	ENSP00000298556.7:n.135-106T>A
ENST00000298556.7:c.135-106T>A	ENSP00000298556.7:n.135-106T>A
ENST00000462974.5:n.293-106T>A
ENST00000475720.1:n.93-106T>A
NM_000194.2:c.135-106T>A	NP_000185.1:n.135-106T>A
XM_011531328.1:c.153-106T>A	XP_011529630.1:n.153-106T>A
NM_000194.3:c.135-106T>A MANE Select	NP_000185.1:n.135-106T>A