Canonical Allele Identifier: CA10521424
Gene: HPRT1 HGNC NCBI

Linked Data

dbSNP Id: rs776417613
ExAC: X:133632373 C / T
gnomAD v2: X-133632373-C-T
gnomAD v4: X-134498343-C-T
MyVariant Identifiers: chrX:g.133632373C>T (hg19) chrX:g.134498343C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134498343C>T , CM000685.2:g.134498343C>T GRCh38
NC_000023.10:g.133632373C>T , CM000685.1:g.133632373C>T GRCh37
NC_000023.9:g.133460039C>T NCBI36
NG_012329.1:g.43199C>T
NG_012329.2:g.43199C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.486-47C>T MANE Select ENSP00000298556.7:n.486-47C>T
ENST00000298556.7:c.486-47C>T ENSP00000298556.7:n.486-47C>T
ENST00000462974.5:n.644-47C>T
ENST00000475720.1:n.444-47C>T
NM_000194.2:c.486-47C>T NP_000185.1:n.486-47C>T
XM_011531328.1:c.504-47C>T XP_011529630.1:n.504-47C>T
NM_000194.3:c.486-47C>T MANE Select NP_000185.1:n.486-47C>T
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