Canonical Allele Identifier: CA1598647

Gene: XDH

Linked Data

• ClinVar Variation Id: 335769
• ClinVar RCV Id: RCV000370785 ; RCV001485627 ; RCV003932333
• dbSNP Id: rs142675390
• ExAC: 2:31572670 C / T
• gnomAD v2: 2-31572670-C-T
• gnomAD v3: 2-31349804-C-T
• gnomAD v4: 2-31349804-C-T
• MyVariant Identifiers: chr2:g.31572670C>T (hg19) ; chr2:g.31349804C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31349804C>T , CM000664.2:g.31349804C>T	GRCh38
NC_000002.11:g.31572670C>T , CM000664.1:g.31572670C>T	GRCh37
NC_000002.10:g.31426174C>T	NCBI36
NG_008871.1:g.69942G>A
NG_008871.2:g.69942G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379416.4:c.2851G>A MANE Select	ENSP00000368727.3:p.Gly951Arg
ENST00000379416.3:c.2851G>A	ENSP00000368727.3:p.Gly951Arg
NM_000379.3:c.2851G>A	NP_000370.2:p.Gly951Arg
XM_011533095.1:c.2848G>A	XP_011531397.1:p.Gly950Arg
XM_011533096.1:c.2851G>A	XP_011531398.1:p.Gly951Arg
XM_011533095.2:c.2848G>A	XP_011531397.1:p.Gly950Arg
XM_011533096.2:c.2851G>A	XP_011531398.1:p.Gly951Arg
NM_000379.4:c.2851G>A MANE Select	NP_000370.2:p.Gly951Arg