Canonical Allele Identifier: CA414715470
Gene: HPRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.133632425T>G (hg19) chrX:g.134498395T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134498395T>G , CM000685.2:g.134498395T>G GRCh38
NC_000023.10:g.133632425T>G , CM000685.1:g.133632425T>G GRCh37
NC_000023.9:g.133460091T>G NCBI36
NG_012329.1:g.43251T>G
NG_012329.2:g.43251T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298556.8:c.491T>G MANE Select ENSP00000298556.7:p.Leu164Arg
ENST00000298556.7:c.491T>G ENSP00000298556.7:p.Leu164Arg
ENST00000462974.5:n.649T>G
ENST00000475720.1:n.449T>G
NM_000194.2:c.491T>G NP_000185.1:p.Leu164Arg
XM_011531328.1:c.509T>G XP_011529630.1:p.Leu170Arg
NM_000194.3:c.491T>G MANE Select NP_000185.1:p.Leu164Arg
Search 100 bp 5'
Search 100 bp 3'