Canonical Allele Identifier: CA414713623
Gene: HPRT1 HGNC NCBI

Linked Data

dbSNP Id: rs137852482
gnomAD v3: X-134486475-C-A
gnomAD v4: X-134486475-C-A
MyVariant Identifiers: chrX:g.133620505C>A (hg19) chrX:g.134486475C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134486475C>A , CM000685.2:g.134486475C>A GRCh38
NC_000023.10:g.133620505C>A , CM000685.1:g.133620505C>A GRCh37
NC_000023.9:g.133448171C>A NCBI36
NG_012329.1:g.31331C>A
NG_012329.2:g.31331C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.329C>A MANE Select ENSP00000298556.7:p.Ser110Ter
ENST00000298556.7:c.329C>A ENSP00000298556.7:p.Ser110Ter
ENST00000462974.5:n.487C>A
ENST00000475720.1:n.287C>A
NM_000194.2:c.329C>A NP_000185.1:p.Ser110Ter
XM_011531328.1:c.347C>A XP_011529630.1:p.Ser116Ter
NM_000194.3:c.329C>A MANE Select NP_000185.1:p.Ser110Ter
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