Canonical Allele Identifier: CA6770925

Gene: DAO

Linked Data

• ClinVar Variation Id: 1243869
• ClinVar RCV Id: RCV001646030
• dbSNP Id: rs2111902
• ExAC: 12:109278747 T / G
• gnomAD v2: 12-109278747-T-G
• gnomAD v3: 12-108884971-T-G
• gnomAD v4: 12-108884971-T-G
• MyVariant Identifiers: chr12:g.109278747T>G (hg19) ; chr12:g.108884971T>G (hg38)

Genomic Alleles

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

Transcript Alleles

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