Canonical Allele Identifier: CA2536970189

Gene: HPRT1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134493350A>G , CM000685.2:g.134493350A>G	GRCh38
NC_000023.10:g.133627380A>G , CM000685.1:g.133627380A>G	GRCh37
NC_000023.9:g.133455046A>G	NCBI36
NG_012329.1:g.38206A>G
NG_012329.2:g.38206A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298556.8:c.403-158A>G MANE Select	ENSP00000298556.7:n.403-158A>G
ENST00000298556.7:c.403-158A>G	ENSP00000298556.7:n.403-158A>G
ENST00000462974.5:n.561-158A>G
ENST00000475720.1:n.361-158A>G
NM_000194.2:c.403-158A>G	NP_000185.1:n.403-158A>G
XM_011531328.1:c.421-158A>G	XP_011529630.1:n.421-158A>G
NM_000194.3:c.403-158A>G MANE Select	NP_000185.1:n.403-158A>G