Canonical Allele Identifier: CA1599071
Gene: XDH HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.31372264C>T
GRCh37 chr2:g.31595130C>T
Revel Score:
ENST00000379416 (MANE Select) 0.066
gnomAD v2:
2:31595130 C / T
gnomAD v3:
2:31372264 C / T
gnomAD v4:
chr2-31372264-C-T
Joint Max Group AF 0.00418727 (NFE)
Genomes Max Group AF 0.0036077 (NFE)
Exomes Max Group AF 0.00420166 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31372264C>T , CM000664.2:g.31372264C>T GRCh38
NC_000002.11:g.31595130C>T , CM000664.1:g.31595130C>T GRCh37
NC_000002.10:g.31448634C>T NCBI36
NG_008871.1:g.47482G>A
NG_008871.2:g.47482G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379416.4:c.1820G>A MANE Select ENSP00000368727.3:p.Arg607Gln
ENST00000379416.3:c.1820G>A ENSP00000368727.3:p.Arg607Gln
NM_000379.3:c.1820G>A NP_000370.2:p.Arg607Gln
XM_011533095.1:c.1817G>A XP_011531397.1:p.Arg606Gln
XM_011533096.1:c.1820G>A XP_011531398.1:p.Arg607Gln
XM_011533095.2:c.1817G>A XP_011531397.1:p.Arg606Gln
XM_011533096.2:c.1820G>A XP_011531398.1:p.Arg607Gln
NM_000379.4:c.1820G>A MANE Select NP_000370.2:p.Arg607Gln
Search 100 bp 5'
Search 100 bp 3'