Canonical Allele Identifier: CA1598918
Gene: XDH HGNC NCBI
COSMIC:
COSN8868128 (not active)
MyVariant.info:
GRCh38 chr2:g.31367919C>G
GRCh37 chr2:g.31590785C>G
gnomAD v2:
2:31590785 C / G
gnomAD v3:
2:31367919 C / G
gnomAD v4:
chr2-31367919-C-G
Joint Max Group AF 0.37017051 (AMR)
Genomes Max Group AF 0.34810008 (SAS)
Exomes Max Group AF 0.38786592 (AMR)
ClinVar RCV:
RCV001640023
ClinVar Variation:
1239092
dbSNP:
761926
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31367919C>G , CM000664.2:g.31367919C>G GRCh38
NC_000002.11:g.31590785C>G , CM000664.1:g.31590785C>G GRCh37
NC_000002.10:g.31444289C>G NCBI36
NG_008871.1:g.51827G>C
NG_008871.2:g.51827G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379416.4:c.2197+42G>C MANE Select ENSP00000368727.3:n.2197+42G>C
ENST00000379416.3:c.2197+42G>C ENSP00000368727.3:n.2197+42G>C
NM_000379.3:c.2197+42G>C NP_000370.2:n.2197+42G>C
XM_011533095.1:c.2194+42G>C XP_011531397.1:n.2194+42G>C
XM_011533096.1:c.2197+42G>C XP_011531398.1:n.2197+42G>C
XM_011533095.2:c.2194+42G>C XP_011531397.1:n.2194+42G>C
XM_011533096.2:c.2197+42G>C XP_011531398.1:n.2197+42G>C
NM_000379.4:c.2197+42G>C MANE Select NP_000370.2:n.2197+42G>C
Search 100 bp 5'
Search 100 bp 3'