Canonical Allele Identifier: CA120894
Gene: HPRT1 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.134486475C>T
GRCh37 chrX:g.133620505C>T
Revel Score:
ENST00000298556 (MANE Select) 0.926
ENST00000370796 0.926
gnomAD v4:
chrX-134486475-C-T
Joint Max Group AF 4.1e-7 (NFE)
Exomes Max Group AF 4.3e-7 (NFE)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000298556.8:c.329C>T MANE Select ENSP00000298556.7:p.Ser110Leu
ENST00000298556.7:c.329C>T ENSP00000298556.7:p.Ser110Leu
ENST00000462974.5:n.487C>T
ENST00000475720.1:n.287C>T
NM_000194.2:c.329C>T NP_000185.1:p.Ser110Leu
XM_011531328.1:c.347C>T XP_011529630.1:p.Ser116Leu
NM_000194.3:c.329C>T MANE Select NP_000185.1:p.Ser110Leu
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