Canonical Allele Identifier: CA1599278

Gene: XDH

Linked Data

• ClinVar Variation Id: 335788
• ClinVar RCV Id: RCV000259874 ; RCV000972440
• dbSNP Id: rs138649664
• ExAC: 2:31600072 G / C
• gnomAD v2: 2-31600072-G-C
• gnomAD v3: 2-31377206-G-C
• gnomAD v4: 2-31377206-G-C
• MyVariant Identifiers: chr2:g.31600072G>C (hg19) ; chr2:g.31377206G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31377206G>C , CM000664.2:g.31377206G>C	GRCh38
NC_000002.11:g.31600072G>C , CM000664.1:g.31600072G>C	GRCh37
NC_000002.10:g.31453576G>C	NCBI36
NG_008871.1:g.42540C>G
NG_008871.2:g.42540C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379416.4:c.1274C>G MANE Select	ENSP00000368727.3:p.Ser425Cys
ENST00000379416.3:c.1274C>G	ENSP00000368727.3:p.Ser425Cys
NM_000379.3:c.1274C>G	NP_000370.2:p.Ser425Cys
XM_011533095.1:c.1274C>G	XP_011531397.1:p.Ser425Cys
XM_011533096.1:c.1274C>G	XP_011531398.1:p.Ser425Cys
XM_011533095.2:c.1274C>G	XP_011531397.1:p.Ser425Cys
XM_011533096.2:c.1274C>G	XP_011531398.1:p.Ser425Cys
NM_000379.4:c.1274C>G MANE Select	NP_000370.2:p.Ser425Cys