Canonical Allele Identifier: CA1599546
Gene: XDH HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31387810C>T , CM000664.2:g.31387810C>T GRCh38
NC_000002.11:g.31610676C>T , CM000664.1:g.31610676C>T GRCh37
NC_000002.10:g.31464180C>T NCBI36
NG_008871.1:g.31936G>A
NG_008871.2:g.31936G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379416.4:c.651+1G>A MANE Select ENSP00000368727.3:n.651+1G>A
ENST00000379416.3:c.651+1G>A ENSP00000368727.3:n.651+1G>A
ENST00000491727.5:n.194+1G>A
NM_000379.3:c.651+1G>A NP_000370.2:n.651+1G>A
XM_011533095.1:c.651+1G>A XP_011531397.1:n.651+1G>A
XM_011533096.1:c.651+1G>A XP_011531398.1:n.651+1G>A
XM_011533095.2:c.651+1G>A XP_011531397.1:n.651+1G>A
XM_011533096.2:c.651+1G>A XP_011531398.1:n.651+1G>A
NM_000379.4:c.651+1G>A MANE Select NP_000370.2:n.651+1G>A