Canonical Allele Identifier: CA2694742318
Gene: HPRT1 HGNC NCBI

Linked Data

gnomAD v4: X-134498348-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134498348T>C , CM000685.2:g.134498348T>C GRCh38
NC_000023.10:g.133632378T>C , CM000685.1:g.133632378T>C GRCh37
NC_000023.9:g.133460044T>C NCBI36
NG_012329.1:g.43204T>C
NG_012329.2:g.43204T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.486-42T>C MANE Select ENSP00000298556.7:n.486-42T>C
ENST00000298556.7:c.486-42T>C ENSP00000298556.7:n.486-42T>C
ENST00000462974.5:n.644-42T>C
ENST00000475720.1:n.444-42T>C
NM_000194.2:c.486-42T>C NP_000185.1:n.486-42T>C
XM_011531328.1:c.504-42T>C XP_011529630.1:n.504-42T>C
NM_000194.3:c.486-42T>C MANE Select NP_000185.1:n.486-42T>C
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