Canonical Allele Identifier: CA518650371

Gene: HPRT1

Linked Data

• MyVariant Identifiers: chrX:g.133627576T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134493546T>A , CM000685.2:g.134493546T>A	GRCh38
NC_000023.10:g.133627576T>A , CM000685.1:g.133627576T>A	GRCh37
NC_000023.9:g.133455242T>A	NCBI36
NG_012329.1:g.38402T>A
NG_012329.2:g.38402T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298556.8:c.441T>A MANE Select	ENSP00000298556.7:p.Leu147=
ENST00000298556.7:c.441T>A	ENSP00000298556.7:p.Leu147=
ENST00000462974.5:n.599T>A
ENST00000475720.1:n.399T>A
NM_000194.2:c.441T>A	NP_000185.1:p.Leu147=
XM_011531328.1:c.459T>A	XP_011529630.1:p.Leu153=
NM_000194.3:c.441T>A MANE Select	NP_000185.1:p.Leu147=