Canonical Allele Identifier: CA1598570

Gene: XDH

Linked Data

• ClinVar Variation Id: 335767
• ClinVar RCV Id: RCV000309015 ; RCV000902914 ; RCV001729547
• dbSNP Id: rs370085305
• ExAC: 2:31571233 G / A
• gnomAD v2: 2-31571233-G-A
• gnomAD v3: 2-31348367-G-A
• gnomAD v4: 2-31348367-G-A
• MyVariant Identifiers: chr2:g.31571233G>A (hg19) ; chr2:g.31348367G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31348367G>A , CM000664.2:g.31348367G>A	GRCh38
NC_000002.11:g.31571233G>A , CM000664.1:g.31571233G>A	GRCh37
NC_000002.10:g.31424737G>A	NCBI36
NG_008871.1:g.71379C>T
NG_008871.2:g.71379C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379416.4:c.3052-4C>T MANE Select	ENSP00000368727.3:n.3052-4C>T
ENST00000379416.3:c.3052-4C>T	ENSP00000368727.3:n.3052-4C>T
NM_000379.3:c.3052-4C>T	NP_000370.2:n.3052-4C>T
XM_011533095.1:c.3049-4C>T	XP_011531397.1:n.3049-4C>T
XM_011533096.1:c.3052-4C>T	XP_011531398.1:n.3052-4C>T
XM_011533095.2:c.3049-4C>T	XP_011531397.1:n.3049-4C>T
XM_011533096.2:c.3052-4C>T	XP_011531398.1:n.3052-4C>T
NM_000379.4:c.3052-4C>T MANE Select	NP_000370.2:n.3052-4C>T