Canonical Allele Identifier: CA10521433
Gene: HPRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1600782
ClinVar RCV Id: RCV002118131
dbSNP Id: rs137852497
ExAC: X:133632442 C / A
gnomAD v2: X-133632442-C-A
gnomAD v3: X-134498412-C-A
gnomAD v4: X-134498412-C-A
MyVariant Identifiers: chrX:g.133632442C>A (hg19) chrX:g.134498412C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134498412C>A , CM000685.2:g.134498412C>A GRCh38
NC_000023.10:g.133632442C>A , CM000685.1:g.133632442C>A GRCh37
NC_000023.9:g.133460108C>A NCBI36
NG_012329.1:g.43268C>A
NG_012329.2:g.43268C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.508C>A MANE Select ENSP00000298556.7:p.Arg170=
ENST00000298556.7:c.508C>A ENSP00000298556.7:p.Arg170=
ENST00000462974.5:n.666C>A
ENST00000475720.1:n.466C>A
NM_000194.2:c.508C>A NP_000185.1:p.Arg170=
XM_011531328.1:c.526C>A XP_011529630.1:p.Arg176=
NM_000194.3:c.508C>A MANE Select NP_000185.1:p.Arg170=
Search 100 bp 5'
Search 100 bp 3'