Canonical Allele Identifier: CA414711952
Gene: HPRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.133609242G>A (hg19) chrX:g.134475212G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475212G>A , CM000685.2:g.134475212G>A GRCh38
NC_000023.10:g.133609242G>A , CM000685.1:g.133609242G>A GRCh37
NC_000023.9:g.133436908G>A NCBI36
NG_012329.1:g.20068G>A
NG_012329.2:g.20068G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.166G>A MANE Select ENSP00000298556.7:p.Glu56Lys
ENST00000298556.7:c.166G>A ENSP00000298556.7:p.Glu56Lys
ENST00000462974.5:n.324G>A
ENST00000475720.1:n.124G>A
NM_000194.2:c.166G>A NP_000185.1:p.Glu56Lys
XM_011531328.1:c.184G>A XP_011529630.1:p.Glu62Lys
NM_000194.3:c.166G>A MANE Select NP_000185.1:p.Glu56Lys
Search 100 bp 5'
Search 100 bp 3'