Canonical Allele Identifier: CA2694740432
Gene: HPRT1 HGNC NCBI

Linked Data

gnomAD v4: X-134486414-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134486414C>T , CM000685.2:g.134486414C>T GRCh38
NC_000023.10:g.133620444C>T , CM000685.1:g.133620444C>T GRCh37
NC_000023.9:g.133448110C>T NCBI36
NG_012329.1:g.31270C>T
NG_012329.2:g.31270C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.319-51C>T MANE Select ENSP00000298556.7:n.319-51C>T
ENST00000298556.7:c.319-51C>T ENSP00000298556.7:n.319-51C>T
ENST00000462974.5:n.477-51C>T
ENST00000475720.1:n.277-51C>T
NM_000194.2:c.319-51C>T NP_000185.1:n.319-51C>T
XM_011531328.1:c.337-51C>T XP_011529630.1:n.337-51C>T
NM_000194.3:c.319-51C>T MANE Select NP_000185.1:n.319-51C>T
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