Canonical Allele Identifier: CA2459744854
Gene: HPRT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134498320C= , CM000685.2:g.134498320C= GRCh38
NC_000023.10:g.133632350C= , CM000685.1:g.133632350C= GRCh37
NC_000023.9:g.133460016C= NCBI36
NG_012329.1:g.43176C=
NG_012329.2:g.43176C=

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.486-70C= MANE Select ENSP00000298556.7:n.486-70C=
ENST00000298556.7:c.486-70C= ENSP00000298556.7:n.486-70C=
ENST00000462974.5:n.644-70C=
ENST00000475720.1:n.444-70C=
NM_000194.2:c.486-70C= NP_000185.1:n.486-70C=
XM_011531328.1:c.504-70C= XP_011529630.1:n.504-70C=
NM_000194.3:c.486-70C= MANE Select NP_000185.1:n.486-70C=
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