Canonical Allele Identifier: CA2695236028

Gene: HPRT1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134475369G>A , CM000685.2:g.134475369G>A	GRCh38
NC_000023.10:g.133609399G>A , CM000685.1:g.133609399G>A	GRCh37
NC_000023.9:g.133437065G>A	NCBI36
NG_012329.1:g.20225G>A
NG_012329.2:g.20225G>A

Transcript Alleles

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