Canonical Allele Identifier: CA336033967
Gene: HPRT1 HGNC NCBI

Linked Data

dbSNP Id: rs117407
gnomAD v3: X-134475080-A-G
gnomAD v4: X-134475080-A-G
MyVariant Identifiers: chrX:g.134475080A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475080A>G , CM000685.2:g.134475080A>G GRCh38
NG_012329.2:g.19936A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.135-101A>G MANE Select ENSP00000298556.7:n.135-101A>G
ENST00000298556.7:c.135-101A>G ENSP00000298556.7:n.135-101A>G
ENST00000462974.5:n.293-101A>G
ENST00000475720.1:n.93-101A>G
NM_000194.2:c.135-101A>G NP_000185.1:n.135-101A>G
XM_011531328.1:c.153-101A>G XP_011529630.1:n.153-101A>G
NM_000194.3:c.135-101A>G MANE Select NP_000185.1:n.135-101A>G
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