Canonical Allele Identifier: CA1599559

Gene: XDH

Linked Data

• ClinVar Variation Id: 335797
• ClinVar RCV Id: RCV000289556 ; RCV002519967
• dbSNP Id: rs752308380
• ExAC: 2:31610722 C / T
• gnomAD v2: 2-31610722-C-T
• gnomAD v3: 2-31387856-C-T
• gnomAD v4: 2-31387856-C-T
• COSMIC: COSM4093821
• MyVariant Identifiers: chr2:g.31610722C>T (hg19) ; chr2:g.31387856C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31387856C>T , CM000664.2:g.31387856C>T	GRCh38
NC_000002.11:g.31610722C>T , CM000664.1:g.31610722C>T	GRCh37
NC_000002.10:g.31464226C>T	NCBI36
NG_008871.1:g.31890G>A
NG_008871.2:g.31890G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379416.4:c.606G>A MANE Select	ENSP00000368727.3:p.Thr202=
ENST00000379416.3:c.606G>A	ENSP00000368727.3:p.Thr202=
ENST00000491727.5:n.149G>A
NM_000379.3:c.606G>A	NP_000370.2:p.Thr202=
XM_011533095.1:c.606G>A	XP_011531397.1:p.Thr202=
XM_011533096.1:c.606G>A	XP_011531398.1:p.Thr202=
XM_011533095.2:c.606G>A	XP_011531397.1:p.Thr202=
XM_011533096.2:c.606G>A	XP_011531398.1:p.Thr202=
NM_000379.4:c.606G>A MANE Select	NP_000370.2:p.Thr202=