Canonical Allele Identifier: CA414713789
Gene: HPRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.133624233G>C (hg19) chrX:g.134490203G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134490203G>C , CM000685.2:g.134490203G>C GRCh38
NC_000023.10:g.133624233G>C , CM000685.1:g.133624233G>C GRCh37
NC_000023.9:g.133451899G>C NCBI36
NG_012329.1:g.35059G>C
NG_012329.2:g.35059G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.400G>C MANE Select ENSP00000298556.7:p.Glu134Gln
ENST00000298556.7:c.400G>C ENSP00000298556.7:p.Glu134Gln
ENST00000462974.5:n.558G>C
ENST00000475720.1:n.358G>C
NM_000194.2:c.400G>C NP_000185.1:p.Glu134Gln
XM_011531328.1:c.418G>C XP_011529630.1:p.Glu140Gln
NM_000194.3:c.400G>C MANE Select NP_000185.1:p.Glu134Gln
Search 100 bp 5'
Search 100 bp 3'