Canonical Allele Identifier: CA414714368
Gene: HPRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.133627577T>G (hg19) chrX:g.134493547T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134493547T>G , CM000685.2:g.134493547T>G GRCh38
NC_000023.10:g.133627577T>G , CM000685.1:g.133627577T>G GRCh37
NC_000023.9:g.133455243T>G NCBI36
NG_012329.1:g.38403T>G
NG_012329.2:g.38403T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298556.8:c.442T>G MANE Select ENSP00000298556.7:p.Ser148Ala
ENST00000298556.7:c.442T>G ENSP00000298556.7:p.Ser148Ala
ENST00000462974.5:n.600T>G
ENST00000475720.1:n.400T>G
NM_000194.2:c.442T>G NP_000185.1:p.Ser148Ala
XM_011531328.1:c.460T>G XP_011529630.1:p.Ser154Ala
NM_000194.3:c.442T>G MANE Select NP_000185.1:p.Ser148Ala
Search 100 bp 5'
Search 100 bp 3'