Canonical Allele Identifier: CA2459737414
Gene: HPRT1 HGNC NCBI

Linked Data

dbSNP Id: rs2077621299
gnomAD v4: X-134475152-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475152C>T , CM000685.2:g.134475152C>T GRCh38
NC_000023.10:g.133609182C>T , CM000685.1:g.133609182C>T GRCh37
NC_000023.9:g.133436848C>T NCBI36
NG_012329.1:g.20008C>T
NG_012329.2:g.20008C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.135-29C>T MANE Select ENSP00000298556.7:n.135-29C>T
ENST00000298556.7:c.135-29C>T ENSP00000298556.7:n.135-29C>T
ENST00000462974.5:n.293-29C>T
ENST00000475720.1:n.93-29C>T
NM_000194.2:c.135-29C>T NP_000185.1:n.135-29C>T
XM_011531328.1:c.153-29C>T XP_011529630.1:n.153-29C>T
NM_000194.3:c.135-29C>T MANE Select NP_000185.1:n.135-29C>T
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