Canonical Allele Identifier: CA2658507282
Gene: XDH HGNC NCBI

Linked Data

gnomAD v4: 2-31348835-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31348835G>T , CM000664.2:g.31348835G>T GRCh38
NC_000002.11:g.31571701G>T , CM000664.1:g.31571701G>T GRCh37
NC_000002.10:g.31425205G>T NCBI36
NG_008871.1:g.70911C>A
NG_008871.2:g.70911C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379416.4:c.3051+64C>A MANE Select ENSP00000368727.3:n.3051+64C>A
ENST00000379416.3:c.3051+64C>A ENSP00000368727.3:n.3051+64C>A
NM_000379.3:c.3051+64C>A NP_000370.2:n.3051+64C>A
XM_011533095.1:c.3048+64C>A XP_011531397.1:n.3048+64C>A
XM_011533096.1:c.3051+64C>A XP_011531398.1:n.3051+64C>A
XM_011533095.2:c.3048+64C>A XP_011531397.1:n.3048+64C>A
XM_011533096.2:c.3051+64C>A XP_011531398.1:n.3051+64C>A
NM_000379.4:c.3051+64C>A MANE Select NP_000370.2:n.3051+64C>A