Canonical Allele Identifier: CA210840
Gene: XDH HGNC NCBI

Linked Data

ClinVar Variation Id: 2956
ClinVar RCV Id: RCV000003090
dbSNP Id: rs72549369
ExAC: 2:31620584 G / A
gnomAD v2: 2-31620584-G-A
gnomAD v3: 2-31397718-G-A
gnomAD v4: 2-31397718-G-A
MyVariant Identifiers: chr2:g.31620584G>A (hg19) chr2:g.31397718G>A (hg38)
PubMed: PMID:11379872
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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'
Search 100 bp 3'