Canonical Allele Identifier: CA14976818

Gene: ACO2 POLR3H

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41527647T>C , CM000684.2:g.41527647T>C	GRCh38
NC_000022.10:g.41923651T>C , CM000684.1:g.41923651T>C	GRCh37
NC_000022.9:g.40253597T>C	NCBI36
NG_032143.1:g.63523T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001018050.4:c.*1636A>G (POLR3H) MANE Select	NP_001018060.1:n.*1636A>G
NM_001098.3:c.2086+227T>C (ACO2) MANE Select	NP_001089.1:n.2086+227T>C
ENST00000216254.9:c.2086+227T>C (ACO2) MANE Select	ENSP00000216254.4:n.2086+227T>C
ENST00000355209.9:c.*1636A>G (POLR3H) MANE Select	ENSP00000347345.4:n.*1636A>G
NM_001018050.3:c.*1636A>G (POLR3H)	NP_001018060.1:n.*1636A>G
NM_001018052.3:c.*1636A>G (POLR3H)	NP_001018062.1:n.*1636A>G
NM_001018052.4:c.*1636A>G (POLR3H)	NP_001018062.1:n.*1636A>G
NM_001098.2:c.2086+227T>C (ACO2)	NP_001089.1:n.2086+227T>C
NM_001282884.1:c.*1636A>G (POLR3H)	NP_001269813.1:n.*1636A>G
NM_001282884.2:c.*1636A>G (POLR3H)	NP_001269813.1:n.*1636A>G
NM_001282885.1:c.*1636A>G (POLR3H)	NP_001269814.1:n.*1636A>G
NM_001282885.2:c.*1636A>G (POLR3H)	NP_001269814.1:n.*1636A>G
NM_138338.4:c.*1636A>G (POLR3H)	NP_612211.1:n.*1636A>G
NM_138338.5:c.*1636A>G (POLR3H)	NP_612211.1:n.*1636A>G
ENST00000216254.8:c.2086+227T>C (ACO2)	ENSP00000216254.4:n.2086+227T>C
ENST00000355209.8:c.*1636A>G (POLR3H)	ENSP00000347345.4:n.*1636A>G
ENST00000396504.6:c.*1636A>G (POLR3H)	ENSP00000379761.2:n.*1636A>G
ENST00000396512.3:c.2161+227T>C (ACO2)	ENSP00000379769.3:n.2161+227T>C
ENST00000676664.1:c.2149+227T>C (ACO2)	ENSP00000503709.1:n.2149+227T>C
ENST00000676714.1:c.*2004+227T>C (ACO2)	ENSP00000504699.1:n.*2004+227T>C
ENST00000676748.1:c.1987+227T>C (ACO2)	ENSP00000503371.1:n.1987+227T>C
ENST00000676792.1:c.1921+227T>C (ACO2)	ENSP00000503590.1:n.1921+227T>C
ENST00000676822.1:n.2334+227T>C (ACO2)
ENST00000676883.1:n.2105+227T>C (ACO2)
ENST00000676959.1:c.*543+227T>C (ACO2)	ENSP00000504377.1:n.*543+227T>C
ENST00000677007.1:c.*861+227T>C (ACO2)	ENSP00000504634.1:n.*861+227T>C
ENST00000677153.1:c.1987+227T>C (ACO2)	ENSP00000504453.1:n.1987+227T>C
ENST00000677492.1:n.3045+227T>C (ACO2)
ENST00000677516.1:c.*1485+227T>C (ACO2)	ENSP00000503370.1:n.*1485+227T>C
ENST00000677532.1:c.2110+227T>C (ACO2)	ENSP00000503471.1:n.2110+227T>C
ENST00000677554.1:c.1894+227T>C (ACO2)	ENSP00000504513.1:n.1894+227T>C
ENST00000677698.1:c.2459+227T>C (ACO2)
ENST00000678269.1:c.2161+227T>C (ACO2)	ENSP00000504150.1:n.2161+227T>C
ENST00000678394.1:n.2801+227T>C (ACO2)
ENST00000678600.1:n.2354T>C (ACO2)
ENST00000678688.1:c.*1322+227T>C (ACO2)	ENSP00000503990.1:n.*1322+227T>C
ENST00000678788.1:c.2071+227T>C (ACO2)	ENSP00000504684.1:n.2071+227T>C
ENST00000678819.1:c.*1949+227T>C (ACO2)	ENSP00000503199.1:n.*1949+227T>C
ENST00000679264.1:n.3067+227T>C (ACO2)
ENST00000679284.1:n.1979+227T>C (ACO2)
ENST00000679311.1:n.2333+227T>C (ACO2)
ENST00000679320.1:c.2150+227T>C (ACO2)	ENSP00000504780.1:n.2150+227T>C
XM_017028812.1:c.1987+227T>C (ACO2)	XP_016884301.1:n.1987+227T>C
XM_024452250.1:c.2086+227T>C (ACO2)	XP_024308018.1:n.2086+227T>C