Canonical Allele Identifier: CA414713619

Gene: HPRT1

Linked Data

• gnomAD v4: X-134486473-G-T
• MyVariant Identifiers: chrX:g.133620503G>T (hg19) ; chrX:g.134486473G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134486473G>T , CM000685.2:g.134486473G>T	GRCh38
NC_000023.10:g.133620503G>T , CM000685.1:g.133620503G>T	GRCh37
NC_000023.9:g.133448169G>T	NCBI36
NG_012329.1:g.31329G>T
NG_012329.2:g.31329G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298556.8:c.327G>T MANE Select	ENSP00000298556.7:p.Gln109His
ENST00000298556.7:c.327G>T	ENSP00000298556.7:p.Gln109His
ENST00000462974.5:n.485G>T
ENST00000475720.1:n.285G>T
NM_000194.2:c.327G>T	NP_000185.1:p.Gln109His
XM_011531328.1:c.345G>T	XP_011529630.1:p.Gln115His
NM_000194.3:c.327G>T MANE Select	NP_000185.1:p.Gln109His