Canonical Allele Identifier: CA2694742230

Gene: HPRT1

Linked Data

• gnomAD v4: X-134475080-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134475080A>T , CM000685.2:g.134475080A>T	GRCh38
NG_012329.2:g.19936A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298556.8:c.135-101A>T MANE Select	ENSP00000298556.7:n.135-101A>T
ENST00000298556.7:c.135-101A>T	ENSP00000298556.7:n.135-101A>T
ENST00000462974.5:n.293-101A>T
ENST00000475720.1:n.93-101A>T
NM_000194.2:c.135-101A>T	NP_000185.1:n.135-101A>T
XM_011531328.1:c.153-101A>T	XP_011529630.1:n.153-101A>T
NM_000194.3:c.135-101A>T MANE Select	NP_000185.1:n.135-101A>T