Canonical Allele Identifier: CA414713620
Gene: HPRT1 HGNC NCBI

Linked Data

gnomAD v3: X-134486474-T-A
gnomAD v4: X-134486474-T-A
MyVariant Identifiers: chrX:g.133620504T>A (hg19) chrX:g.134486474T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134486474T>A , CM000685.2:g.134486474T>A GRCh38
NC_000023.10:g.133620504T>A , CM000685.1:g.133620504T>A GRCh37
NC_000023.9:g.133448170T>A NCBI36
NG_012329.1:g.31330T>A
NG_012329.2:g.31330T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.328T>A MANE Select ENSP00000298556.7:p.Ser110Thr
ENST00000298556.7:c.328T>A ENSP00000298556.7:p.Ser110Thr
ENST00000462974.5:n.486T>A
ENST00000475720.1:n.286T>A
NM_000194.2:c.328T>A NP_000185.1:p.Ser110Thr
XM_011531328.1:c.346T>A XP_011529630.1:p.Ser116Thr
NM_000194.3:c.328T>A MANE Select NP_000185.1:p.Ser110Thr
Search 100 bp 5'
Search 100 bp 3'