Canonical Allele Identifier: CA1844617815
Gene: ACO1 HGNC NCBI

Linked Data

dbSNP Id: rs1821680516

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32409196T>G , CM000671.2:g.32409196T>G GRCh38
NC_000009.11:g.32409194T>G , CM000671.1:g.32409194T>G GRCh37
NC_000009.10:g.32399194T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309951.8:c.404+545T>G MANE Select ENSP00000309477.5:n.404+545T>G
ENST00000309951.7:c.404+545T>G ENSP00000309477.5:n.404+545T>G
ENST00000379923.5:c.404+545T>G ENSP00000369255.1:n.404+545T>G
ENST00000541043.5:c.404+545T>G ENSP00000438733.2:n.404+545T>G
NM_001278352.1:c.404+545T>G NP_001265281.1:n.404+545T>G
NM_002197.2:c.404+545T>G NP_002188.1:n.404+545T>G
XM_005251476.1:c.404+545T>G XP_005251533.1:n.404+545T>G
XM_011517888.1:c.404+545T>G XP_011516190.1:n.404+545T>G
NM_001362840.1:c.404+545T>G NP_001349769.1:n.404+545T>G
XM_011517888.2:c.404+545T>G XP_011516190.1:n.404+545T>G
NM_002197.3:c.404+545T>G MANE Select NP_002188.1:n.404+545T>G
NM_001362840.2:c.404+545T>G NP_001349769.1:n.404+545T>G
NM_001278352.2:c.404+545T>G NP_001265281.1:n.404+545T>G