Canonical Allele Identifier: CA1599285

Gene: XDH

Linked Data

• ClinVar Variation Id: 335789
• ClinVar RCV Id: RCV000317392 ; RCV002057694
• dbSNP Id: rs200362582
• ExAC: 2:31600110 G / C
• gnomAD v2: 2-31600110-G-C
• gnomAD v3: 2-31377244-G-C
• gnomAD v4: 2-31377244-G-C
• MyVariant Identifiers: chr2:g.31600110G>C (hg19) ; chr2:g.31377244G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31377244G>C , CM000664.2:g.31377244G>C	GRCh38
NC_000002.11:g.31600110G>C , CM000664.1:g.31600110G>C	GRCh37
NC_000002.10:g.31453614G>C	NCBI36
NG_008871.1:g.42502C>G
NG_008871.2:g.42502C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379416.4:c.1243-7C>G MANE Select	ENSP00000368727.3:n.1243-7C>G
ENST00000379416.3:c.1243-7C>G	ENSP00000368727.3:n.1243-7C>G
NM_000379.3:c.1243-7C>G	NP_000370.2:n.1243-7C>G
XM_011533095.1:c.1243-7C>G	XP_011531397.1:n.1243-7C>G
XM_011533096.1:c.1243-7C>G	XP_011531398.1:n.1243-7C>G
XM_011533095.2:c.1243-7C>G	XP_011531397.1:n.1243-7C>G
XM_011533096.2:c.1243-7C>G	XP_011531398.1:n.1243-7C>G
NM_000379.4:c.1243-7C>G MANE Select	NP_000370.2:n.1243-7C>G