Canonical Allele Identifier: CA414714323
Gene: HPRT1 HGNC NCBI

Linked Data

dbSNP Id: rs1258275872
gnomAD v3: X-134493538-A-G
gnomAD v4: X-134493538-A-G
MyVariant Identifiers: chrX:g.133627568A>G (hg19) chrX:g.134493538A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134493538A>G , CM000685.2:g.134493538A>G GRCh38
NC_000023.10:g.133627568A>G , CM000685.1:g.133627568A>G GRCh37
NC_000023.9:g.133455234A>G NCBI36
NG_012329.1:g.38394A>G
NG_012329.2:g.38394A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298556.8:c.433A>G MANE Select ENSP00000298556.7:p.Thr145Ala
ENST00000298556.7:c.433A>G ENSP00000298556.7:p.Thr145Ala
ENST00000462974.5:n.591A>G
ENST00000475720.1:n.391A>G
NM_000194.2:c.433A>G NP_000185.1:p.Thr145Ala
XM_011531328.1:c.451A>G XP_011529630.1:p.Thr151Ala
NM_000194.3:c.433A>G MANE Select NP_000185.1:p.Thr145Ala
Search 100 bp 5'
Search 100 bp 3'