Canonical Allele Identifier: CA414714239
Gene: HPRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.133627553G>C (hg19) chrX:g.134493523G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134493523G>C , CM000685.2:g.134493523G>C GRCh38
NC_000023.10:g.133627553G>C , CM000685.1:g.133627553G>C GRCh37
NC_000023.9:g.133455219G>C NCBI36
NG_012329.1:g.38379G>C
NG_012329.2:g.38379G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298556.8:c.418G>C MANE Select ENSP00000298556.7:p.Gly140Arg
ENST00000298556.7:c.418G>C ENSP00000298556.7:p.Gly140Arg
ENST00000462974.5:n.576G>C
ENST00000475720.1:n.376G>C
NM_000194.2:c.418G>C NP_000185.1:p.Gly140Arg
XM_011531328.1:c.436G>C XP_011529630.1:p.Gly146Arg
NM_000194.3:c.418G>C MANE Select NP_000185.1:p.Gly140Arg
Search 100 bp 5'
Search 100 bp 3'