Canonical Allele Identifier: CA915946682
Community Standard Title: NM_001917.5(DAO):c.814-4C>G
Gene: DAO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.108899373C>G , CM000674.2:g.108899373C>G GRCh38
NC_000012.11:g.109293149C>G , CM000674.1:g.109293149C>G GRCh37
NC_000012.10:g.107817278C>G NCBI36
NG_023236.1:g.24293C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001917.5:c.814-4C>G MANE Select NP_001908.3:n.814-4C>G
ENST00000228476.8:c.814-4C>G MANE Select ENSP00000228476.3:n.814-4C>G
NM_001917.4:c.814-4C>G NP_001908.3:n.814-4C>G
ENST00000228476.7:c.814-4C>G ENSP00000228476.3:n.814-4C>G
ENST00000546552.1:n.326-4C>G
ENST00000547122.5:c.*462-4C>G ENSP00000448095.1:n.*462-4C>G
ENST00000547768.5:c.445-4C>G ENSP00000449967.1:n.445-4C>G
ENST00000549215.5:c.*365-4C>G ENSP00000449248.1:n.*365-4C>G
ENST00000551281.5:c.616-4C>G ENSP00000446853.1:n.616-4C>G
XM_005268692.2:c.748-4C>G XP_005268749.1:n.748-4C>G
XM_005268692.4:c.748-4C>G XP_005268749.1:n.748-4C>G
XM_011538004.1:c.814-4C>G XP_011536306.1:n.814-4C>G
XM_011538004.2:c.814-4C>G XP_011536306.1:n.814-4C>G
XM_011538005.1:c.814-4C>G XP_011536307.1:n.814-4C>G
XM_011538005.2:c.814-4C>G XP_011536307.1:n.814-4C>G