Canonical Allele Identifier: CA518652829
Gene: HPRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.133609280C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475250C>T , CM000685.2:g.134475250C>T GRCh38
NC_000023.10:g.133609280C>T , CM000685.1:g.133609280C>T GRCh37
NC_000023.9:g.133436946C>T NCBI36
NG_012329.1:g.20106C>T
NG_012329.2:g.20106C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.204C>T MANE Select ENSP00000298556.7:p.Leu68=
ENST00000298556.7:c.204C>T ENSP00000298556.7:p.Leu68=
ENST00000462974.5:n.362C>T
ENST00000475720.1:n.162C>T
NM_000194.2:c.204C>T NP_000185.1:p.Leu68=
XM_011531328.1:c.222C>T XP_011529630.1:p.Leu74=
NM_000194.3:c.204C>T MANE Select NP_000185.1:p.Leu68=
Search 100 bp 5'
Search 100 bp 3'