Canonical Allele Identifier: CA414714254
Gene: HPRT1 HGNC NCBI

Linked Data

dbSNP Id: rs1240182715

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134493526A>G , CM000685.2:g.134493526A>G GRCh38
NC_000023.10:g.133627556A>G , CM000685.1:g.133627556A>G GRCh37
NC_000023.9:g.133455222A>G NCBI36
NG_012329.1:g.38382A>G
NG_012329.2:g.38382A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298556.8:c.421A>G MANE Select ENSP00000298556.7:p.Lys141Glu
ENST00000298556.7:c.421A>G ENSP00000298556.7:p.Lys141Glu
ENST00000462974.5:n.579A>G
ENST00000475720.1:n.379A>G
NM_000194.2:c.421A>G NP_000185.1:p.Lys141Glu
XM_011531328.1:c.439A>G XP_011529630.1:p.Lys147Glu
NM_000194.3:c.421A>G MANE Select NP_000185.1:p.Lys141Glu