Canonical Allele Identifier: CA518650393
Gene: HPRT1 HGNC NCBI

Linked Data

gnomAD v4: X-134493585-C-A
MyVariant Identifiers: chrX:g.133627615C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134493585C>A , CM000685.2:g.134493585C>A GRCh38
NC_000023.10:g.133627615C>A , CM000685.1:g.133627615C>A GRCh37
NC_000023.9:g.133455281C>A NCBI36
NG_012329.1:g.38441C>A
NG_012329.2:g.38441C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298556.8:c.480C>A MANE Select ENSP00000298556.7:p.Val160=
ENST00000298556.7:c.480C>A ENSP00000298556.7:p.Val160=
ENST00000462974.5:n.638C>A
ENST00000475720.1:n.438C>A
NM_000194.2:c.480C>A NP_000185.1:p.Val160=
XM_011531328.1:c.498C>A XP_011529630.1:p.Val166=
NM_000194.3:c.480C>A MANE Select NP_000185.1:p.Val160=
Search 100 bp 5'
Search 100 bp 3'