Canonical Allele Identifier: CA1599092
Gene: XDH HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.31372335C>T
GRCh37 chr2:g.31595201C>T
gnomAD v2:
2:31595201 C / T
gnomAD v3:
2:31372335 C / T
gnomAD v4:
chr2-31372335-C-T
Joint Max Group AF 0.00126826 (MID)
Genomes Max Group AF 0.00008868 (AMR)
Exomes Max Group AF 0.00081387 (MID)
ClinVar Allele:
289108
ClinVar RCV:
RCV000315328
RCV002057693
ClinVar Variation:
335783
dbSNP:
141831710
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31372335C>T , CM000664.2:g.31372335C>T GRCh38
NC_000002.11:g.31595201C>T , CM000664.1:g.31595201C>T GRCh37
NC_000002.10:g.31448705C>T NCBI36
NG_008871.1:g.47411G>A
NG_008871.2:g.47411G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379416.4:c.1749G>A MANE Select ENSP00000368727.3:p.Ala583=
ENST00000379416.3:c.1749G>A ENSP00000368727.3:p.Ala583=
NM_000379.3:c.1749G>A NP_000370.2:p.Ala583=
XM_011533095.1:c.1746G>A XP_011531397.1:p.Ala582=
XM_011533096.1:c.1749G>A XP_011531398.1:p.Ala583=
XM_011533095.2:c.1746G>A XP_011531397.1:p.Ala582=
XM_011533096.2:c.1749G>A XP_011531398.1:p.Ala583=
NM_000379.4:c.1749G>A MANE Select NP_000370.2:p.Ala583=
Search 100 bp 5'
Search 100 bp 3'