Canonical Allele Identifier: CA12630815

Gene: AOAH

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.36570887T>C , CM000669.2:g.36570887T>C	GRCh38
NC_000007.13:g.36610493T>C , CM000669.1:g.36610493T>C	GRCh37
NC_000007.12:g.36577018T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617537.5:c.1021+5687A>G MANE Select	ENSP00000483783.1:n.1021+5687A>G
ENST00000480201.1:n.298+5687A>G
ENST00000487014.5:n.243+5687A>G
ENST00000495942.5:n.298+5687A>G
ENST00000612871.4:c.925+5687A>G	ENSP00000484305.1:n.925+5687A>G
ENST00000617267.4:c.1021+5687A>G	ENSP00000479664.1:n.1021+5687A>G
ENST00000617537.4:c.1021+5687A>G	ENSP00000483783.1:n.1021+5687A>G
NM_001177506.1:c.1021+5687A>G	NP_001170977.1:n.1021+5687A>G
NM_001177507.1:c.925+5687A>G	NP_001170978.1:n.925+5687A>G
NM_001637.3:c.1021+5687A>G	NP_001628.1:n.1021+5687A>G
XM_011515333.1:c.1021+5687A>G	XP_011513635.1:n.1021+5687A>G
XM_011515334.1:c.925+5687A>G	XP_011513636.1:n.925+5687A>G
XM_011515335.1:c.898+5687A>G	XP_011513637.1:n.898+5687A>G
XM_011515336.1:c.1021+5687A>G	XP_011513638.1:n.1021+5687A>G
XM_011515337.1:c.1021+5687A>G	XP_011513639.1:n.1021+5687A>G
XM_011515338.1:c.1021+5687A>G	XP_011513640.1:n.1021+5687A>G
XM_011515339.1:c.1021+5687A>G	XP_011513641.1:n.1021+5687A>G
XM_011515340.1:c.1021+5687A>G	XP_011513642.1:n.1021+5687A>G
XM_011515341.1:c.1021+5687A>G	XP_011513643.1:n.1021+5687A>G
XM_011515342.1:c.190+5687A>G	XP_011513644.1:n.190+5687A>G
XM_011515333.2:c.1021+5687A>G	XP_011513635.1:n.1021+5687A>G
XM_011515334.2:c.925+5687A>G	XP_011513636.1:n.925+5687A>G
XM_011515335.2:c.898+5687A>G	XP_011513637.1:n.898+5687A>G
XM_011515336.2:c.1021+5687A>G	XP_011513638.1:n.1021+5687A>G
XM_011515338.2:c.1021+5687A>G	XP_011513640.1:n.1021+5687A>G
XM_011515339.2:c.1021+5687A>G	XP_011513641.1:n.1021+5687A>G
XM_011515340.2:c.1021+5687A>G	XP_011513642.1:n.1021+5687A>G
XM_011515341.2:c.1021+5687A>G	XP_011513643.1:n.1021+5687A>G
XM_011515342.2:c.190+5687A>G	XP_011513644.1:n.190+5687A>G
XM_017012102.2:c.1021+5687A>G	XP_016867591.1:n.1021+5687A>G
XM_017012104.1:c.1021+5687A>G	XP_016867593.1:n.1021+5687A>G
XM_017012105.1:c.328+5687A>G	XP_016867594.1:n.328+5687A>G
XM_017012106.1:c.1021+5687A>G	XP_016867595.1:n.1021+5687A>G
NM_001637.4:c.1021+5687A>G MANE Select	NP_001628.1:n.1021+5687A>G
NM_001177506.2:c.1021+5687A>G	NP_001170977.1:n.1021+5687A>G
NM_001177507.2:c.925+5687A>G	NP_001170978.1:n.925+5687A>G