Canonical Allele Identifier: CA1122964924

Gene: ACO1

Linked Data

• dbSNP Id: rs1822285190
• gnomAD v3: 9-32433475-A-G
• gnomAD v4: 9-32433475-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32433475A>G , CM000671.2:g.32433475A>G	GRCh38
NC_000009.11:g.32433473A>G , CM000671.1:g.32433473A>G	GRCh37
NC_000009.10:g.32423473A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000309951.8:c.1852-253A>G MANE Select	ENSP00000309477.5:n.1852-253A>G
ENST00000309951.7:c.1852-253A>G	ENSP00000309477.5:n.1852-253A>G
ENST00000379923.5:c.1852-253A>G	ENSP00000369255.1:n.1852-253A>G
ENST00000541043.5:c.1852-253A>G	ENSP00000438733.2:n.1852-253A>G
NM_001278352.1:c.1852-253A>G	NP_001265281.1:n.1852-253A>G
NM_002197.2:c.1852-253A>G	NP_002188.1:n.1852-253A>G
XM_005251476.1:c.1852-253A>G	XP_005251533.1:n.1852-253A>G
XM_011517888.1:c.1852-253A>G	XP_011516190.1:n.1852-253A>G
NM_001362840.1:c.1852-253A>G	NP_001349769.1:n.1852-253A>G
XM_011517888.2:c.1852-253A>G	XP_011516190.1:n.1852-253A>G
NM_002197.3:c.1852-253A>G MANE Select	NP_002188.1:n.1852-253A>G
NM_001362840.2:c.1852-253A>G	NP_001349769.1:n.1852-253A>G
NM_001278352.2:c.1852-253A>G	NP_001265281.1:n.1852-253A>G