Canonical Allele Identifier: CA871747064
Gene: HPRT1 HGNC NCBI

Linked Data

dbSNP Id: rs1210662539
gnomAD v3: X-134486383-G-GT
gnomAD v4: X-134486383-G-GT
MyVariant Identifiers: chrX:g.133620413_133620414insT (hg19) chrX:g.134486383_134486384insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134486386dup , CM000685.2:g.134486386dup GRCh38
NC_000023.10:g.133620416dup , CM000685.1:g.133620416dup GRCh37
NC_000023.9:g.133448082dup NCBI36
NG_012329.1:g.31242dup
NG_012329.2:g.31242dup

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.319-79dup MANE Select ENSP00000298556.7:n.319-79dup
ENST00000298556.7:c.319-79dup ENSP00000298556.7:n.319-79dup
ENST00000462974.5:n.477-79dup
ENST00000475720.1:n.277-79dup
NM_000194.2:c.319-79dup NP_000185.1:n.319-79dup
XM_011531328.1:c.337-79dup XP_011529630.1:n.337-79dup
NM_000194.3:c.319-79dup MANE Select NP_000185.1:n.319-79dup
Search 100 bp 5'
Search 100 bp 3'