Canonical Allele Identifier: CA414713630

Gene: HPRT1

Linked Data

• gnomAD v4: X-134486478-C-T
• MyVariant Identifiers: chrX:g.133620508C>T (hg19) ; chrX:g.134486478C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134486478C>T , CM000685.2:g.134486478C>T	GRCh38
NC_000023.10:g.133620508C>T , CM000685.1:g.133620508C>T	GRCh37
NC_000023.9:g.133448174C>T	NCBI36
NG_012329.1:g.31334C>T
NG_012329.2:g.31334C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298556.8:c.332C>T MANE Select	ENSP00000298556.7:p.Thr111Ile
ENST00000298556.7:c.332C>T	ENSP00000298556.7:p.Thr111Ile
ENST00000462974.5:n.490C>T
ENST00000475720.1:n.290C>T
NM_000194.2:c.332C>T	NP_000185.1:p.Thr111Ile
XM_011531328.1:c.350C>T	XP_011529630.1:p.Thr117Ile
NM_000194.3:c.332C>T MANE Select	NP_000185.1:p.Thr111Ile