Canonical Allele Identifier: CA518652821
Gene: HPRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.133609271C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134475241C>G , CM000685.2:g.134475241C>G GRCh38
NC_000023.10:g.133609271C>G , CM000685.1:g.133609271C>G GRCh37
NC_000023.9:g.133436937C>G NCBI36
NG_012329.1:g.20097C>G
NG_012329.2:g.20097C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.195C>G MANE Select ENSP00000298556.7:p.Leu65=
ENST00000298556.7:c.195C>G ENSP00000298556.7:p.Leu65=
ENST00000462974.5:n.353C>G
ENST00000475720.1:n.153C>G
NM_000194.2:c.195C>G NP_000185.1:p.Leu65=
XM_011531328.1:c.213C>G XP_011529630.1:p.Leu71=
NM_000194.3:c.195C>G MANE Select NP_000185.1:p.Leu65=
Search 100 bp 5'
Search 100 bp 3'