Canonical Allele Identifier: CA10521411
Gene: HPRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2931390
ClinVar RCV Id: RCV003785092
dbSNP Id: rs376266868
ExAC: X:133627521 G / A
gnomAD v2: X-133627521-G-A
gnomAD v3: X-134493491-G-A
gnomAD v4: X-134493491-G-A
MyVariant Identifiers: chrX:g.133627521G>A (hg19) chrX:g.134493491G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134493491G>A , CM000685.2:g.134493491G>A GRCh38
NC_000023.10:g.133627521G>A , CM000685.1:g.133627521G>A GRCh37
NC_000023.9:g.133455187G>A NCBI36
NG_012329.1:g.38347G>A
NG_012329.2:g.38347G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298556.8:c.403-17G>A MANE Select ENSP00000298556.7:n.403-17G>A
ENST00000298556.7:c.403-17G>A ENSP00000298556.7:n.403-17G>A
ENST00000462974.5:n.561-17G>A
ENST00000475720.1:n.361-17G>A
NM_000194.2:c.403-17G>A NP_000185.1:n.403-17G>A
XM_011531328.1:c.421-17G>A XP_011529630.1:n.421-17G>A
NM_000194.3:c.403-17G>A MANE Select NP_000185.1:n.403-17G>A
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