Canonical Allele Identifier: CA1599278
Gene: XDH HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.31377206G>C
GRCh37 chr2:g.31600072G>C
Revel Score:
ENST00000379416 (MANE Select) 0.196
gnomAD v2:
2:31600072 G / C
gnomAD v3:
2:31377206 G / C
gnomAD v4:
chr2-31377206-G-C
Joint Max Group AF 0.00238933 (NFE)
Genomes Max Group AF 0.00163002 (NFE)
Exomes Max Group AF 0.00242131 (NFE)
ClinVar Allele:
289472
ClinVar RCV:
RCV000259874
RCV000972440
ClinVar Variation:
335788
dbSNP:
138649664
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31377206G>C , CM000664.2:g.31377206G>C GRCh38
NC_000002.11:g.31600072G>C , CM000664.1:g.31600072G>C GRCh37
NC_000002.10:g.31453576G>C NCBI36
NG_008871.1:g.42540C>G
NG_008871.2:g.42540C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379416.4:c.1274C>G MANE Select ENSP00000368727.3:p.Ser425Cys
ENST00000379416.3:c.1274C>G ENSP00000368727.3:p.Ser425Cys
NM_000379.3:c.1274C>G NP_000370.2:p.Ser425Cys
XM_011533095.1:c.1274C>G XP_011531397.1:p.Ser425Cys
XM_011533096.1:c.1274C>G XP_011531398.1:p.Ser425Cys
XM_011533095.2:c.1274C>G XP_011531397.1:p.Ser425Cys
XM_011533096.2:c.1274C>G XP_011531398.1:p.Ser425Cys
NM_000379.4:c.1274C>G MANE Select NP_000370.2:p.Ser425Cys
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