Canonical Allele Identifier: CA2459741060

Gene: HPRT1

Linked Data

• dbSNP Id: rs2077652748

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134486405A>G , CM000685.2:g.134486405A>G	GRCh38
NC_000023.10:g.133620435A>G , CM000685.1:g.133620435A>G	GRCh37
NC_000023.9:g.133448101A>G	NCBI36
NG_012329.1:g.31261A>G
NG_012329.2:g.31261A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298556.8:c.319-60A>G MANE Select	ENSP00000298556.7:n.319-60A>G
ENST00000298556.7:c.319-60A>G	ENSP00000298556.7:n.319-60A>G
ENST00000462974.5:n.477-60A>G
ENST00000475720.1:n.277-60A>G
NM_000194.2:c.319-60A>G	NP_000185.1:n.319-60A>G
XM_011531328.1:c.337-60A>G	XP_011529630.1:n.337-60A>G
NM_000194.3:c.319-60A>G MANE Select	NP_000185.1:n.319-60A>G