Canonical Allele Identifier: CA414711846
Gene: HPRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2044061
ClinVar RCV Id: RCV002913470
MyVariant Identifiers: chrX:g.133609215G>C (hg19) chrX:g.134475185G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475185G>C , CM000685.2:g.134475185G>C GRCh38
NC_000023.10:g.133609215G>C , CM000685.1:g.133609215G>C GRCh37
NC_000023.9:g.133436881G>C NCBI36
NG_012329.1:g.20041G>C
NG_012329.2:g.20041G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.139G>C MANE Select ENSP00000298556.7:p.Glu47Gln
ENST00000298556.7:c.139G>C ENSP00000298556.7:p.Glu47Gln
ENST00000462974.5:n.297G>C
ENST00000475720.1:n.97G>C
NM_000194.2:c.139G>C NP_000185.1:p.Glu47Gln
XM_011531328.1:c.157G>C XP_011529630.1:p.Glu53Gln
NM_000194.3:c.139G>C MANE Select NP_000185.1:p.Glu47Gln
Search 100 bp 5'
Search 100 bp 3'