Canonical Allele Identifier: CA1599063

Gene: XDH

Linked Data

• ClinVar Variation Id: 335780
• ClinVar RCV Id: RCV000306483 ; RCV000968777 ; RCV003409531
• dbSNP Id: rs184028774
• ExAC: 2:31595087 C / T
• gnomAD v2: 2-31595087-C-T
• gnomAD v3: 2-31372221-C-T
• gnomAD v4: 2-31372221-C-T
• MyVariant Identifiers: chr2:g.31595087C>T (hg19) ; chr2:g.31372221C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31372221C>T , CM000664.2:g.31372221C>T	GRCh38
NC_000002.11:g.31595087C>T , CM000664.1:g.31595087C>T	GRCh37
NC_000002.10:g.31448591C>T	NCBI36
NG_008871.1:g.47525G>A
NG_008871.2:g.47525G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379416.4:c.1856+7G>A MANE Select	ENSP00000368727.3:n.1856+7G>A
ENST00000379416.3:c.1856+7G>A	ENSP00000368727.3:n.1856+7G>A
NM_000379.3:c.1856+7G>A	NP_000370.2:n.1856+7G>A
XM_011533095.1:c.1853+7G>A	XP_011531397.1:n.1853+7G>A
XM_011533096.1:c.1856+7G>A	XP_011531398.1:n.1856+7G>A
XM_011533095.2:c.1853+7G>A	XP_011531397.1:n.1853+7G>A
XM_011533096.2:c.1856+7G>A	XP_011531398.1:n.1856+7G>A
NM_000379.4:c.1856+7G>A MANE Select	NP_000370.2:n.1856+7G>A