Canonical Allele Identifier: CA518650080
Gene: HPRT1 HGNC NCBI

Linked Data

gnomAD v4: X-134490199-T-A
MyVariant Identifiers: chrX:g.133624229T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134490199T>A , CM000685.2:g.134490199T>A GRCh38
NC_000023.10:g.133624229T>A , CM000685.1:g.133624229T>A GRCh37
NC_000023.9:g.133451895T>A NCBI36
NG_012329.1:g.35055T>A
NG_012329.2:g.35055T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.396T>A MANE Select ENSP00000298556.7:p.Ile132=
ENST00000298556.7:c.396T>A ENSP00000298556.7:p.Ile132=
ENST00000462974.5:n.554T>A
ENST00000475720.1:n.354T>A
NM_000194.2:c.396T>A NP_000185.1:p.Ile132=
XM_011531328.1:c.414T>A XP_011529630.1:p.Ile138=
NM_000194.3:c.396T>A MANE Select NP_000185.1:p.Ile132=
Search 100 bp 5'
Search 100 bp 3'