Canonical Allele Identifier: CA518652826
Gene: HPRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.133609277G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475247G>T , CM000685.2:g.134475247G>T GRCh38
NC_000023.10:g.133609277G>T , CM000685.1:g.133609277G>T GRCh37
NC_000023.9:g.133436943G>T NCBI36
NG_012329.1:g.20103G>T
NG_012329.2:g.20103G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.201G>T MANE Select ENSP00000298556.7:p.Val67=
ENST00000298556.7:c.201G>T ENSP00000298556.7:p.Val67=
ENST00000462974.5:n.359G>T
ENST00000475720.1:n.159G>T
NM_000194.2:c.201G>T NP_000185.1:p.Val67=
XM_011531328.1:c.219G>T XP_011529630.1:p.Val73=
NM_000194.3:c.201G>T MANE Select NP_000185.1:p.Val67=
Search 100 bp 5'
Search 100 bp 3'