Canonical Allele Identifier: CA1598291

Gene: XDH

Linked Data

• ClinVar Variation Id: 255970
• ClinVar RCV Id: RCV000253683 ; RCV000385518 ; RCV001519628 ; RCV001682973
• dbSNP Id: rs207440
• ExAC: 2:31562412 C / T
• gnomAD v2: 2-31562412-C-T
• gnomAD v3: 2-31339546-C-T
• gnomAD v4: 2-31339546-C-T
• MyVariant Identifiers: chr2:g.31562412C>T (hg19) ; chr2:g.31339546C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31339546C>T , CM000664.2:g.31339546C>T	GRCh38
NC_000002.11:g.31562412C>T , CM000664.1:g.31562412C>T	GRCh37
NC_000002.10:g.31415916C>T	NCBI36
NG_008871.1:g.80200G>A
NG_008871.2:g.80200G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379416.4:c.3717G>A MANE Select	ENSP00000368727.3:p.Glu1239=
ENST00000379416.3:c.3717G>A	ENSP00000368727.3:p.Glu1239=
NM_000379.3:c.3717G>A	NP_000370.2:p.Glu1239=
XM_011533095.1:c.3714G>A	XP_011531397.1:p.Glu1238=
XM_011533095.2:c.3714G>A	XP_011531397.1:p.Glu1238=
NM_000379.4:c.3717G>A MANE Select	NP_000370.2:p.Glu1239=