Canonical Allele Identifier: CA414714373

Gene: HPRT1

Linked Data

• MyVariant Identifiers: chrX:g.133627578C>T (hg19) ; chrX:g.134493548C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134493548C>T , CM000685.2:g.134493548C>T	GRCh38
NC_000023.10:g.133627578C>T , CM000685.1:g.133627578C>T	GRCh37
NC_000023.9:g.133455244C>T	NCBI36
NG_012329.1:g.38404C>T
NG_012329.2:g.38404C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298556.8:c.443C>T MANE Select	ENSP00000298556.7:p.Ser148Phe
ENST00000298556.7:c.443C>T	ENSP00000298556.7:p.Ser148Phe
ENST00000462974.5:n.601C>T
ENST00000475720.1:n.401C>T
NM_000194.2:c.443C>T	NP_000185.1:p.Ser148Phe
XM_011531328.1:c.461C>T	XP_011529630.1:p.Ser154Phe
NM_000194.3:c.443C>T MANE Select	NP_000185.1:p.Ser148Phe