Canonical Allele Identifier: CA336034698
Gene: HPRT1 HGNC NCBI

Linked Data

dbSNP Id: rs760006661
gnomAD v3: X-134486371-A-T
gnomAD v4: X-134486371-A-T
MyVariant Identifiers: chrX:g.133620401A>T (hg19) chrX:g.134486371A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134486371A>T , CM000685.2:g.134486371A>T GRCh38
NC_000023.10:g.133620401A>T , CM000685.1:g.133620401A>T GRCh37
NC_000023.9:g.133448067A>T NCBI36
NG_012329.1:g.31227A>T
NG_012329.2:g.31227A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.319-94A>T MANE Select ENSP00000298556.7:n.319-94A>T
ENST00000298556.7:c.319-94A>T ENSP00000298556.7:n.319-94A>T
ENST00000462974.5:n.477-94A>T
ENST00000475720.1:n.277-94A>T
NM_000194.2:c.319-94A>T NP_000185.1:n.319-94A>T
XM_011531328.1:c.337-94A>T XP_011529630.1:n.337-94A>T
NM_000194.3:c.319-94A>T MANE Select NP_000185.1:n.319-94A>T
Search 100 bp 5'
Search 100 bp 3'