Canonical Allele Identifier: CA336033968

Gene: HPRT1

Linked Data

• dbSNP Id: rs971508144
• gnomAD v4: X-134475086-C-T
• MyVariant Identifiers: chrX:g.133609116C>T (hg19) ; chrX:g.134475086C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134475086C>T , CM000685.2:g.134475086C>T	GRCh38
NC_000023.10:g.133609116C>T , CM000685.1:g.133609116C>T	GRCh37
NC_000023.9:g.133436782C>T	NCBI36
NG_012329.1:g.19942C>T
NG_012329.2:g.19942C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298556.8:c.135-95C>T MANE Select	ENSP00000298556.7:n.135-95C>T
ENST00000298556.7:c.135-95C>T	ENSP00000298556.7:n.135-95C>T
ENST00000462974.5:n.293-95C>T
ENST00000475720.1:n.93-95C>T
NM_000194.2:c.135-95C>T	NP_000185.1:n.135-95C>T
XM_011531328.1:c.153-95C>T	XP_011529630.1:n.153-95C>T
NM_000194.3:c.135-95C>T MANE Select	NP_000185.1:n.135-95C>T