Canonical Allele Identifier: CA2738985150

Gene: HPRT1

Linked Data

• dbSNP Id: rs2124305109

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134498346T>G , CM000685.2:g.134498346T>G	GRCh38
NC_000023.10:g.133632376T>G , CM000685.1:g.133632376T>G	GRCh37
NC_000023.9:g.133460042T>G	NCBI36
NG_012329.1:g.43202T>G
NG_012329.2:g.43202T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298556.8:c.486-44T>G MANE Select	ENSP00000298556.7:n.486-44T>G
ENST00000298556.7:c.486-44T>G	ENSP00000298556.7:n.486-44T>G
ENST00000462974.5:n.644-44T>G
ENST00000475720.1:n.444-44T>G
NM_000194.2:c.486-44T>G	NP_000185.1:n.486-44T>G
XM_011531328.1:c.504-44T>G	XP_011529630.1:n.504-44T>G
NM_000194.3:c.486-44T>G MANE Select	NP_000185.1:n.486-44T>G