Canonical Allele Identifier: CA2823682811
Gene: HPRT1 HGNC NCBI
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.135-107C>T MANE Select ENSP00000298556.7:n.135-107C>T
ENST00000298556.7:c.135-107C>T ENSP00000298556.7:n.135-107C>T
ENST00000462974.5:n.293-107C>T
ENST00000475720.1:n.93-107C>T
NM_000194.2:c.135-107C>T NP_000185.1:n.135-107C>T
XM_011531328.1:c.153-107C>T XP_011529630.1:n.153-107C>T
NM_000194.3:c.135-107C>T MANE Select NP_000185.1:n.135-107C>T
Search 100 bp 5'
Search 100 bp 3'