Canonical Allele Identifier: CA2694741142
Gene: HPRT1 HGNC NCBI

Linked Data

gnomAD v4: X-134493404-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134493404A>T , CM000685.2:g.134493404A>T GRCh38
NC_000023.10:g.133627434A>T , CM000685.1:g.133627434A>T GRCh37
NC_000023.9:g.133455100A>T NCBI36
NG_012329.1:g.38260A>T
NG_012329.2:g.38260A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298556.8:c.403-104A>T MANE Select ENSP00000298556.7:n.403-104A>T
ENST00000298556.7:c.403-104A>T ENSP00000298556.7:n.403-104A>T
ENST00000462974.5:n.561-104A>T
ENST00000475720.1:n.361-104A>T
NM_000194.2:c.403-104A>T NP_000185.1:n.403-104A>T
XM_011531328.1:c.421-104A>T XP_011529630.1:n.421-104A>T
NM_000194.3:c.403-104A>T MANE Select NP_000185.1:n.403-104A>T
Search 100 bp 5'
Search 100 bp 3'