Canonical Allele Identifier: CA414712070
Gene: HPRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.133609279T>G (hg19) chrX:g.134475249T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475249T>G , CM000685.2:g.134475249T>G GRCh38
NC_000023.10:g.133609279T>G , CM000685.1:g.133609279T>G GRCh37
NC_000023.9:g.133436945T>G NCBI36
NG_012329.1:g.20105T>G
NG_012329.2:g.20105T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.203T>G MANE Select ENSP00000298556.7:p.Leu68Arg
ENST00000298556.7:c.203T>G ENSP00000298556.7:p.Leu68Arg
ENST00000462974.5:n.361T>G
ENST00000475720.1:n.161T>G
NM_000194.2:c.203T>G NP_000185.1:p.Leu68Arg
XM_011531328.1:c.221T>G XP_011529630.1:p.Leu74Arg
NM_000194.3:c.203T>G MANE Select NP_000185.1:p.Leu68Arg
Search 100 bp 5'
Search 100 bp 3'