Canonical Allele Identifier: CA414714297
Gene: HPRT1 HGNC NCBI

Linked Data

gnomAD v4: X-134493534-G-A
MyVariant Identifiers: chrX:g.133627564G>A (hg19) chrX:g.134493534G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134493534G>A , CM000685.2:g.134493534G>A GRCh38
NC_000023.10:g.133627564G>A , CM000685.1:g.133627564G>A GRCh37
NC_000023.9:g.133455230G>A NCBI36
NG_012329.1:g.38390G>A
NG_012329.2:g.38390G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298556.8:c.429G>A MANE Select ENSP00000298556.7:p.Met143Ile
ENST00000298556.7:c.429G>A ENSP00000298556.7:p.Met143Ile
ENST00000462974.5:n.587G>A
ENST00000475720.1:n.387G>A
NM_000194.2:c.429G>A NP_000185.1:p.Met143Ile
XM_011531328.1:c.447G>A XP_011529630.1:p.Met149Ile
NM_000194.3:c.429G>A MANE Select NP_000185.1:p.Met143Ile
Search 100 bp 5'
Search 100 bp 3'