Canonical Allele Identifier: CA1598242
Gene: XDH HGNC NCBI

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
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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
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Search 100 bp 3'