Canonical Allele Identifier: CA6771016
Community Standard Title: NM_001917.5(DAO):c.250G>A (p.Ala84Thr)
Gene: DAO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.108887505G>A , CM000674.2:g.108887505G>A GRCh38
NC_000012.11:g.109281281G>A , CM000674.1:g.109281281G>A GRCh37
NC_000012.10:g.107805410G>A NCBI36
NG_023236.1:g.12425G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001917.5:c.250G>A MANE Select NP_001908.3:p.Ala84Thr
ENST00000228476.8:c.250G>A MANE Select ENSP00000228476.3:p.Ala84Thr
NM_001917.4:c.250G>A NP_001908.3:p.Ala84Thr
ENST00000228476.7:c.250G>A ENSP00000228476.3:p.Ala84Thr
ENST00000547122.5:c.195-1964G>A ENSP00000448095.1:n.195-1964G>A
ENST00000547166.1:c.250G>A ENSP00000447104.1:p.Ala84Thr
ENST00000547768.5:c.-60-1964G>A ENSP00000449967.1:n.-60-1964G>A
ENST00000549215.5:c.250G>A ENSP00000449248.1:p.Ala84Thr
ENST00000551281.5:c.250G>A ENSP00000446853.1:p.Ala84Thr
XM_005268692.2:c.250G>A XP_005268749.1:p.Ala84Thr
XM_005268692.4:c.250G>A XP_005268749.1:p.Ala84Thr
XM_011538004.1:c.250G>A XP_011536306.1:p.Ala84Thr
XM_011538004.2:c.250G>A XP_011536306.1:p.Ala84Thr
XM_011538005.1:c.250G>A XP_011536307.1:p.Ala84Thr
XM_011538005.2:c.250G>A XP_011536307.1:p.Ala84Thr