Canonical Allele Identifier: CA323486

Gene: ACO2 POLR3H

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41527385G>A , CM000684.2:g.41527385G>A	GRCh38
NC_000022.10:g.41923389G>A , CM000684.1:g.41923389G>A	GRCh37
NC_000022.9:g.40253335G>A	NCBI36
NG_032143.1:g.63261G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001018050.4:c.*1898C>T (POLR3H) MANE Select	NP_001018060.1:n.*1898C>T
NM_001098.3:c.2051G>A (ACO2) MANE Select	NP_001089.1:p.Arg684Gln
ENST00000216254.9:c.2051G>A (ACO2) MANE Select	ENSP00000216254.4:p.Arg684Gln
ENST00000355209.9:c.*1898C>T (POLR3H) MANE Select	ENSP00000347345.4:n.*1898C>T
NM_001018050.3:c.*1898C>T (POLR3H)	NP_001018060.1:n.*1898C>T
NM_001018052.3:c.*1898C>T (POLR3H)	NP_001018062.1:n.*1898C>T
NM_001018052.4:c.*1898C>T (POLR3H)	NP_001018062.1:n.*1898C>T
NM_001098.2:c.2051G>A (ACO2)	NP_001089.1:p.Arg684Gln
NM_001282884.1:c.*1898C>T (POLR3H)	NP_001269813.1:n.*1898C>T
NM_001282884.2:c.*1898C>T (POLR3H)	NP_001269813.1:n.*1898C>T
NM_001282885.1:c.*1898C>T (POLR3H)	NP_001269814.1:n.*1898C>T
NM_001282885.2:c.*1898C>T (POLR3H)	NP_001269814.1:n.*1898C>T
NM_138338.4:c.*1898C>T (POLR3H)	NP_612211.1:n.*1898C>T
NM_138338.5:c.*1898C>T (POLR3H)	NP_612211.1:n.*1898C>T
ENST00000216254.8:c.2051G>A (ACO2)	ENSP00000216254.4:p.Arg684Gln
ENST00000355209.8:c.*1898C>T (POLR3H)	ENSP00000347345.4:n.*1898C>T
ENST00000396504.6:c.*1898C>T (POLR3H)	ENSP00000379761.2:n.*1898C>T
ENST00000396512.3:c.2126G>A (ACO2)	ENSP00000379769.3:p.Arg709Gln
ENST00000676664.1:c.2114G>A (ACO2)	ENSP00000503709.1:n.2114G>A
ENST00000676714.1:c.*1969G>A (ACO2)	ENSP00000504699.1:n.*1969G>A
ENST00000676748.1:c.1952G>A (ACO2)	ENSP00000503371.1:p.Arg651Gln
ENST00000676792.1:c.1886G>A (ACO2)	ENSP00000503590.1:p.Arg629Gln
ENST00000676822.1:n.2299G>A (ACO2)
ENST00000676883.1:n.2070G>A (ACO2)
ENST00000676959.1:c.*508G>A (ACO2)	ENSP00000504377.1:n.*508G>A
ENST00000677007.1:c.*826G>A (ACO2)	ENSP00000504634.1:n.*826G>A
ENST00000677153.1:c.1952G>A (ACO2)	ENSP00000504453.1:p.Arg651Gln
ENST00000677492.1:n.3010G>A (ACO2)
ENST00000677516.1:c.*1450G>A (ACO2)	ENSP00000503370.1:n.*1450G>A
ENST00000677532.1:c.2075G>A (ACO2)	ENSP00000503471.1:p.Arg692Gln
ENST00000677554.1:c.1859G>A (ACO2)	ENSP00000504513.1:p.Arg620Gln
ENST00000677698.1:c.2424G>A (ACO2)
ENST00000678269.1:c.2126G>A (ACO2)	ENSP00000504150.1:p.Arg709Gln
ENST00000678394.1:n.2766G>A (ACO2)
ENST00000678600.1:n.2092G>A (ACO2)
ENST00000678688.1:c.*1287G>A (ACO2)	ENSP00000503990.1:n.*1287G>A
ENST00000678788.1:c.2036G>A (ACO2)	ENSP00000504684.1:p.Arg679Gln
ENST00000678819.1:c.*1914G>A (ACO2)	ENSP00000503199.1:n.*1914G>A
ENST00000679264.1:n.3032G>A (ACO2)
ENST00000679284.1:n.1944G>A (ACO2)
ENST00000679311.1:n.2298G>A (ACO2)
ENST00000679320.1:c.2115G>A (ACO2)	ENSP00000504780.1:p.Pro705=
XM_017028812.1:c.1952G>A (ACO2)	XP_016884301.1:p.Arg651Gln
XM_024452250.1:c.2051G>A (ACO2)	XP_024308018.1:p.Arg684Gln