Canonical Allele Identifier: CA1599136

Gene: XDH

Linked Data

• ClinVar Variation Id: 505602
• ClinVar RCV Id: RCV000685712 ; RCV000616942 ; RCV003156264
• dbSNP Id: rs148412639
• ExAC: 2:31596738 C / G
• gnomAD v2: 2-31596738-C-G
• gnomAD v3: 2-31373872-C-G
• gnomAD v4: 2-31373872-C-G
• MyVariant Identifiers: chr2:g.31596738C>G (hg19) ; chr2:g.31373872C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31373872C>G , CM000664.2:g.31373872C>G	GRCh38
NC_000002.11:g.31596738C>G , CM000664.1:g.31596738C>G	GRCh37
NC_000002.10:g.31450242C>G	NCBI36
NG_008871.1:g.45874G>C
NG_008871.2:g.45874G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379416.4:c.1686+1G>C MANE Select	ENSP00000368727.3:n.1686+1G>C
ENST00000379416.3:c.1686+1G>C	ENSP00000368727.3:n.1686+1G>C
NM_000379.3:c.1686+1G>C	NP_000370.2:n.1686+1G>C
XM_011533095.1:c.1683+1G>C	XP_011531397.1:n.1683+1G>C
XM_011533096.1:c.1686+1G>C	XP_011531398.1:n.1686+1G>C
XM_011533095.2:c.1683+1G>C	XP_011531397.1:n.1683+1G>C
XM_011533096.2:c.1686+1G>C	XP_011531398.1:n.1686+1G>C
NM_000379.4:c.1686+1G>C MANE Select	NP_000370.2:n.1686+1G>C