Canonical Allele Identifier: CA414712049
Gene: HPRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.133609269C>A (hg19) chrX:g.134475239C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475239C>A , CM000685.2:g.134475239C>A GRCh38
NC_000023.10:g.133609269C>A , CM000685.1:g.133609269C>A GRCh37
NC_000023.9:g.133436935C>A NCBI36
NG_012329.1:g.20095C>A
NG_012329.2:g.20095C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.193C>A MANE Select ENSP00000298556.7:p.Leu65Ile
ENST00000298556.7:c.193C>A ENSP00000298556.7:p.Leu65Ile
ENST00000462974.5:n.351C>A
ENST00000475720.1:n.151C>A
NM_000194.2:c.193C>A NP_000185.1:p.Leu65Ile
XM_011531328.1:c.211C>A XP_011529630.1:p.Leu71Ile
NM_000194.3:c.193C>A MANE Select NP_000185.1:p.Leu65Ile
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