Canonical Allele Identifier: CA210840
Gene: XDH HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.31397718G>A
GRCh37 chr2:g.31620584G>A
Revel Score:
ENST00000379416 (MANE Select) 0.819
gnomAD v2:
2:31620584 G / A
gnomAD v3:
2:31397718 G / A
gnomAD v4:
chr2-31397718-G-A
Joint Max Group AF 0.00004368 (SAS)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00004579 (SAS)
ClinVar RCV:
RCV000003090
ClinVar Variation:
2956
dbSNP:
72549369
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31397718G>A , CM000664.2:g.31397718G>A GRCh38
NC_000002.11:g.31620584G>A , CM000664.1:g.31620584G>A GRCh37
NC_000002.10:g.31474088G>A NCBI36
NG_008871.1:g.22028C>T
NG_008871.2:g.22028C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379416.4:c.445C>T MANE Select ENSP00000368727.3:p.Arg149Cys
ENST00000379416.3:c.445C>T ENSP00000368727.3:p.Arg149Cys
NM_000379.3:c.445C>T NP_000370.2:p.Arg149Cys
XM_011533095.1:c.445C>T XP_011531397.1:p.Arg149Cys
XM_011533096.1:c.445C>T XP_011531398.1:p.Arg149Cys
XM_011533095.2:c.445C>T XP_011531397.1:p.Arg149Cys
XM_011533096.2:c.445C>T XP_011531398.1:p.Arg149Cys
NM_000379.4:c.445C>T MANE Select NP_000370.2:p.Arg149Cys
Search 100 bp 5'
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