Canonical Allele Identifier: CA1598307

Gene: XDH

Linked Data

• ClinVar Variation Id: 335760
• ClinVar RCV Id: RCV000336876 ; RCV000735383 ; RCV001240018 ; RCV003480605
• dbSNP Id: rs143981573
• ExAC: 2:31562482 G / T
• gnomAD v2: 2-31562482-G-T
• gnomAD v3: 2-31339616-G-T
• gnomAD v4: 2-31339616-G-T
• MyVariant Identifiers: chr2:g.31562482G>T (hg19) ; chr2:g.31339616G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31339616G>T , CM000664.2:g.31339616G>T	GRCh38
NC_000002.11:g.31562482G>T , CM000664.1:g.31562482G>T	GRCh37
NC_000002.10:g.31415986G>T	NCBI36
NG_008871.1:g.80130C>A
NG_008871.2:g.80130C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379416.4:c.3647C>A MANE Select	ENSP00000368727.3:p.Pro1216His
ENST00000379416.3:c.3647C>A	ENSP00000368727.3:p.Pro1216His
NM_000379.3:c.3647C>A	NP_000370.2:p.Pro1216His
XM_011533095.1:c.3644C>A	XP_011531397.1:p.Pro1215His
XM_011533095.2:c.3644C>A	XP_011531397.1:p.Pro1215His
NM_000379.4:c.3647C>A MANE Select	NP_000370.2:p.Pro1216His