Canonical Allele Identifier: CA1598242

Gene: XDH

Linked Data

• ClinVar Variation Id: 335758
• ClinVar RCV Id: RCV000333311 ; RCV001387749 ; RCV002461092
• dbSNP Id: rs751921838
• ExAC: 2:31560611 G / A
• gnomAD v2: 2-31560611-G-A
• gnomAD v3: 2-31337745-G-A
• gnomAD v4: 2-31337745-G-A
• MyVariant Identifiers: chr2:g.31560611G>A (hg19) ; chr2:g.31337745G>A (hg38)
• PubMed: PMID:26110747

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31337745G>A , CM000664.2:g.31337745G>A	GRCh38
NC_000002.11:g.31560611G>A , CM000664.1:g.31560611G>A	GRCh37
NC_000002.10:g.31414115G>A	NCBI36
NG_008871.1:g.82001C>T
NG_008871.2:g.82001C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379416.4:c.3847C>T MANE Select	ENSP00000368727.3:p.Arg1283Ter
ENST00000379416.3:c.3847C>T	ENSP00000368727.3:p.Arg1283Ter
NM_000379.3:c.3847C>T	NP_000370.2:p.Arg1283Ter
XM_011533095.1:c.3844C>T	XP_011531397.1:p.Arg1282Ter
XM_011533095.2:c.3844C>T	XP_011531397.1:p.Arg1282Ter
NM_000379.4:c.3847C>T MANE Select	NP_000370.2:p.Arg1283Ter