Canonical Allele Identifier: CA1598721

Gene: XDH

Linked Data

• ClinVar Variation Id: 335770
• ClinVar RCV Id: RCV000273894 ; RCV000968296 ; RCV001729548 ; RCV003932334
• dbSNP Id: rs146994573
• ExAC: 2:31573087 A / G
• gnomAD v2: 2-31573087-A-G
• gnomAD v3: 2-31350221-A-G
• gnomAD v4: 2-31350221-A-G
• MyVariant Identifiers: chr2:g.31573087A>G (hg19) ; chr2:g.31350221A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31350221A>G , CM000664.2:g.31350221A>G	GRCh38
NC_000002.11:g.31573087A>G , CM000664.1:g.31573087A>G	GRCh37
NC_000002.10:g.31426591A>G	NCBI36
NG_008871.1:g.69525T>C
NG_008871.2:g.69525T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379416.4:c.2634T>C MANE Select	ENSP00000368727.3:p.Ile878=
ENST00000379416.3:c.2634T>C	ENSP00000368727.3:p.Ile878=
NM_000379.3:c.2634T>C	NP_000370.2:p.Ile878=
XM_011533095.1:c.2631T>C	XP_011531397.1:p.Ile877=
XM_011533096.1:c.2634T>C	XP_011531398.1:p.Ile878=
XM_011533095.2:c.2631T>C	XP_011531397.1:p.Ile877=
XM_011533096.2:c.2634T>C	XP_011531398.1:p.Ile878=
NM_000379.4:c.2634T>C MANE Select	NP_000370.2:p.Ile878=