Canonical Allele Identifier: CA414713615
Gene: HPRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.133620502A>C (hg19) chrX:g.134486472A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134486472A>C , CM000685.2:g.134486472A>C GRCh38
NC_000023.10:g.133620502A>C , CM000685.1:g.133620502A>C GRCh37
NC_000023.9:g.133448168A>C NCBI36
NG_012329.1:g.31328A>C
NG_012329.2:g.31328A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.326A>C MANE Select ENSP00000298556.7:p.Gln109Pro
ENST00000298556.7:c.326A>C ENSP00000298556.7:p.Gln109Pro
ENST00000462974.5:n.484A>C
ENST00000475720.1:n.284A>C
NM_000194.2:c.326A>C NP_000185.1:p.Gln109Pro
XM_011531328.1:c.344A>C XP_011529630.1:p.Gln115Pro
NM_000194.3:c.326A>C MANE Select NP_000185.1:p.Gln109Pro
Search 100 bp 5'
Search 100 bp 3'