Canonical Allele Identifier: CA1599468

Gene: XDH

Linked Data

• ClinVar Variation Id: 335794
• ClinVar RCV Id: RCV000290893 ; RCV000971724
• dbSNP Id: rs145596057
• ExAC: 2:31606682 A / G
• gnomAD v2: 2-31606682-A-G
• gnomAD v3: 2-31383816-A-G
• gnomAD v4: 2-31383816-A-G
• MyVariant Identifiers: chr2:g.31606682A>G (hg19) ; chr2:g.31383816A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31383816A>G , CM000664.2:g.31383816A>G	GRCh38
NC_000002.11:g.31606682A>G , CM000664.1:g.31606682A>G	GRCh37
NC_000002.10:g.31460186A>G	NCBI36
NG_008871.1:g.35930T>C
NG_008871.2:g.35930T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379416.4:c.825T>C MANE Select	ENSP00000368727.3:p.Phe275=
ENST00000379416.3:c.825T>C	ENSP00000368727.3:p.Phe275=
ENST00000476043.1:n.343T>C
ENST00000491727.5:n.368T>C
NM_000379.3:c.825T>C	NP_000370.2:p.Phe275=
XM_011533095.1:c.825T>C	XP_011531397.1:p.Phe275=
XM_011533096.1:c.825T>C	XP_011531398.1:p.Phe275=
XM_011533095.2:c.825T>C	XP_011531397.1:p.Phe275=
XM_011533096.2:c.825T>C	XP_011531398.1:p.Phe275=
NM_000379.4:c.825T>C MANE Select	NP_000370.2:p.Phe275=