Canonical Allele Identifier: CA2581103190
Community Standard Title: NM_001917.5(DAO):c.-9-27T>C
Gene: DAO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.108884971T>C , CM000674.2:g.108884971T>C GRCh38
NC_000012.11:g.109278747T>C , CM000674.1:g.109278747T>C GRCh37
NC_000012.10:g.107802876T>C NCBI36
NG_023236.1:g.9891T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001917.5:c.-9-27T>C MANE Select NP_001908.3:n.-9-27T>C
ENST00000228476.8:c.-9-27T>C MANE Select ENSP00000228476.3:n.-9-27T>C
NM_001917.4:c.-9-27T>C NP_001908.3:n.-9-27T>C
ENST00000228476.7:c.-9-27T>C ENSP00000228476.3:n.-9-27T>C
ENST00000547122.5:c.-9-27T>C ENSP00000448095.1:n.-9-27T>C
ENST00000547166.1:c.-9-27T>C ENSP00000447104.1:n.-9-27T>C
ENST00000547768.5:c.-60-4498T>C ENSP00000449967.1:n.-60-4498T>C
ENST00000549215.5:c.-9-27T>C ENSP00000449248.1:n.-9-27T>C
ENST00000551281.5:c.-9-27T>C ENSP00000446853.1:n.-9-27T>C
XM_005268692.2:c.-9-27T>C XP_005268749.1:n.-9-27T>C
XM_005268692.4:c.-9-27T>C XP_005268749.1:n.-9-27T>C
XM_011538004.1:c.-9-27T>C XP_011536306.1:n.-9-27T>C
XM_011538004.2:c.-9-27T>C XP_011536306.1:n.-9-27T>C
XM_011538005.1:c.-9-27T>C XP_011536307.1:n.-9-27T>C
XM_011538005.2:c.-9-27T>C XP_011536307.1:n.-9-27T>C