Canonical Allele Identifier: CA1598213
Gene: XDH HGNC NCBI

Linked Data

ClinVar Variation Id: 335756
ClinVar RCV Id: RCV000382813 RCV000905670 RCV003409530
dbSNP Id: rs138936101
ExAC: 2:31560528 G / A
gnomAD v2: 2-31560528-G-A
gnomAD v3: 2-31337662-G-A
gnomAD v4: 2-31337662-G-A
MyVariant Identifiers: chr2:g.31560528G>A (hg19) chr2:g.31337662G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31337662G>A , CM000664.2:g.31337662G>A GRCh38
NC_000002.11:g.31560528G>A , CM000664.1:g.31560528G>A GRCh37
NC_000002.10:g.31414032G>A NCBI36
NG_008871.1:g.82084C>T
NG_008871.2:g.82084C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379416.4:c.3930C>T MANE Select ENSP00000368727.3:p.Cys1310=
ENST00000379416.3:c.3930C>T ENSP00000368727.3:p.Cys1310=
NM_000379.3:c.3930C>T NP_000370.2:p.Cys1310=
XM_011533095.1:c.3927C>T XP_011531397.1:p.Cys1309=
XM_011533095.2:c.3927C>T XP_011531397.1:p.Cys1309=
NM_000379.4:c.3930C>T MANE Select NP_000370.2:p.Cys1310=
Search 100 bp 5'
Search 100 bp 3'