Canonical Allele Identifier: CA1599063
Gene: XDH HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.31372221C>T
GRCh37 chr2:g.31595087C>T
gnomAD v2:
2:31595087 C / T
gnomAD v3:
2:31372221 C / T
gnomAD v4:
chr2-31372221-C-T
Joint Max Group AF 0.00364727 (NFE)
Genomes Max Group AF 0.00306759 (AMR)
Exomes Max Group AF 0.00367621 (NFE)
ClinVar Allele:
289468
ClinVar RCV:
RCV000306483
RCV000968777
RCV003409531
ClinVar Variation:
335780
dbSNP:
184028774
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31372221C>T , CM000664.2:g.31372221C>T GRCh38
NC_000002.11:g.31595087C>T , CM000664.1:g.31595087C>T GRCh37
NC_000002.10:g.31448591C>T NCBI36
NG_008871.1:g.47525G>A
NG_008871.2:g.47525G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379416.4:c.1856+7G>A MANE Select ENSP00000368727.3:n.1856+7G>A
ENST00000379416.3:c.1856+7G>A ENSP00000368727.3:n.1856+7G>A
NM_000379.3:c.1856+7G>A NP_000370.2:n.1856+7G>A
XM_011533095.1:c.1853+7G>A XP_011531397.1:n.1853+7G>A
XM_011533096.1:c.1856+7G>A XP_011531398.1:n.1856+7G>A
XM_011533095.2:c.1853+7G>A XP_011531397.1:n.1853+7G>A
XM_011533096.2:c.1856+7G>A XP_011531398.1:n.1856+7G>A
NM_000379.4:c.1856+7G>A MANE Select NP_000370.2:n.1856+7G>A
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