Canonical Allele Identifier: CA414712071
Gene: HPRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1708862
ClinVar RCV Id: RCV002288146
gnomAD v4: X-134475249-T-C
MyVariant Identifiers: chrX:g.133609279T>C (hg19) chrX:g.134475249T>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.203T>C MANE Select ENSP00000298556.7:p.Leu68Pro
ENST00000298556.7:c.203T>C ENSP00000298556.7:p.Leu68Pro
ENST00000462974.5:n.361T>C
ENST00000475720.1:n.161T>C
NM_000194.2:c.203T>C NP_000185.1:p.Leu68Pro
XM_011531328.1:c.221T>C XP_011529630.1:p.Leu74Pro
NM_000194.3:c.203T>C MANE Select NP_000185.1:p.Leu68Pro
Search 100 bp 5'
Search 100 bp 3'