Canonical Allele Identifier: CA10521371

Gene: HPRT1

Linked Data

• ClinVar Variation Id: 435446
• ClinVar RCV Id: RCV000501452 ; RCV001511369
• dbSNP Id: rs748658007
• ExAC: X:133620569 C / T
• gnomAD v2: X-133620569-C-T
• gnomAD v3: X-134486539-C-T
• gnomAD v4: X-134486539-C-T
• MyVariant Identifiers: chrX:g.133620569C>T (hg19) ; chrX:g.134486539C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134486539C>T , CM000685.2:g.134486539C>T	GRCh38
NC_000023.10:g.133620569C>T , CM000685.1:g.133620569C>T	GRCh37
NC_000023.9:g.133448235C>T	NCBI36
NG_012329.1:g.31395C>T
NG_012329.2:g.31395C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298556.8:c.384+9C>T MANE Select	ENSP00000298556.7:n.384+9C>T
ENST00000298556.7:c.384+9C>T	ENSP00000298556.7:n.384+9C>T
ENST00000462974.5:n.542+9C>T
ENST00000475720.1:n.342+9C>T
NM_000194.2:c.384+9C>T	NP_000185.1:n.384+9C>T
XM_011531328.1:c.402+9C>T	XP_011529630.1:n.402+9C>T
NM_000194.3:c.384+9C>T MANE Select	NP_000185.1:n.384+9C>T