Canonical Allele Identifier: CA1599557

Gene: XDH

Linked Data

• ClinVar Variation Id: 335796
• ClinVar RCV Id: RCV000381572 ; RCV002523132
• dbSNP Id: rs201332711
• ExAC: 2:31610711 G / A
• gnomAD v2: 2-31610711-G-A
• gnomAD v3: 2-31387845-G-A
• gnomAD v4: 2-31387845-G-A
• MyVariant Identifiers: chr2:g.31610711G>A (hg19) ; chr2:g.31387845G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31387845G>A , CM000664.2:g.31387845G>A	GRCh38
NC_000002.11:g.31610711G>A , CM000664.1:g.31610711G>A	GRCh37
NC_000002.10:g.31464215G>A	NCBI36
NG_008871.1:g.31901C>T
NG_008871.2:g.31901C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379416.4:c.617C>T MANE Select	ENSP00000368727.3:p.Pro206Leu
ENST00000379416.3:c.617C>T	ENSP00000368727.3:p.Pro206Leu
ENST00000491727.5:n.160C>T
NM_000379.3:c.617C>T	NP_000370.2:p.Pro206Leu
XM_011533095.1:c.617C>T	XP_011531397.1:p.Pro206Leu
XM_011533096.1:c.617C>T	XP_011531398.1:p.Pro206Leu
XM_011533095.2:c.617C>T	XP_011531397.1:p.Pro206Leu
XM_011533096.2:c.617C>T	XP_011531398.1:p.Pro206Leu
NM_000379.4:c.617C>T MANE Select	NP_000370.2:p.Pro206Leu