Canonical Allele Identifier: CA192367322

Gene: ACO1

Linked Data

• dbSNP Id: rs896074334
• gnomAD v2: 9-32409199-T-C
• gnomAD v3: 9-32409201-T-C
• gnomAD v4: 9-32409201-T-C
• MyVariant Identifiers: chr9:g.32409199T>C (hg19) ; chr9:g.32409201T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32409201T>C , CM000671.2:g.32409201T>C	GRCh38
NC_000009.11:g.32409199T>C , CM000671.1:g.32409199T>C	GRCh37
NC_000009.10:g.32399199T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309951.8:c.404+550T>C MANE Select	ENSP00000309477.5:n.404+550T>C
ENST00000309951.7:c.404+550T>C	ENSP00000309477.5:n.404+550T>C
ENST00000379923.5:c.404+550T>C	ENSP00000369255.1:n.404+550T>C
ENST00000541043.5:c.404+550T>C	ENSP00000438733.2:n.404+550T>C
NM_001278352.1:c.404+550T>C	NP_001265281.1:n.404+550T>C
NM_002197.2:c.404+550T>C	NP_002188.1:n.404+550T>C
XM_005251476.1:c.404+550T>C	XP_005251533.1:n.404+550T>C
XM_011517888.1:c.404+550T>C	XP_011516190.1:n.404+550T>C
NM_001362840.1:c.404+550T>C	NP_001349769.1:n.404+550T>C
XM_011517888.2:c.404+550T>C	XP_011516190.1:n.404+550T>C
NM_002197.3:c.404+550T>C MANE Select	NP_002188.1:n.404+550T>C
NM_001362840.2:c.404+550T>C	NP_001349769.1:n.404+550T>C
NM_001278352.2:c.404+550T>C	NP_001265281.1:n.404+550T>C