Canonical Allele Identifier: CA2741796520
Gene: HPRT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475074C>G , CM000685.2:g.134475074C>G GRCh38
NC_000023.10:g.133609104C>G , CM000685.1:g.133609104C>G GRCh37
NC_000023.9:g.133436770C>G NCBI36
NG_012329.1:g.19930C>G
NG_012329.2:g.19930C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.135-107C>G MANE Select ENSP00000298556.7:n.135-107C>G
ENST00000298556.7:c.135-107C>G ENSP00000298556.7:n.135-107C>G
ENST00000462974.5:n.293-107C>G
ENST00000475720.1:n.93-107C>G
NM_000194.2:c.135-107C>G NP_000185.1:n.135-107C>G
XM_011531328.1:c.153-107C>G XP_011529630.1:n.153-107C>G
NM_000194.3:c.135-107C>G MANE Select NP_000185.1:n.135-107C>G
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