Canonical Allele Identifier: CA2694742263
Gene: HPRT1 HGNC NCBI

Linked Data

gnomAD v4: X-134475165-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475165G>A , CM000685.2:g.134475165G>A GRCh38
NC_000023.10:g.133609195G>A , CM000685.1:g.133609195G>A GRCh37
NC_000023.9:g.133436861G>A NCBI36
NG_012329.1:g.20021G>A
NG_012329.2:g.20021G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.135-16G>A MANE Select ENSP00000298556.7:n.135-16G>A
ENST00000298556.7:c.135-16G>A ENSP00000298556.7:n.135-16G>A
ENST00000462974.5:n.293-16G>A
ENST00000475720.1:n.93-16G>A
NM_000194.2:c.135-16G>A NP_000185.1:n.135-16G>A
XM_011531328.1:c.153-16G>A XP_011529630.1:n.153-16G>A
NM_000194.3:c.135-16G>A MANE Select NP_000185.1:n.135-16G>A
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