Canonical Allele Identifier: CA10257957

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41528548G>A , CM000684.2:g.41528548G>A GRCh38
NC_000022.10:g.41924552G>A , CM000684.1:g.41924552G>A GRCh37
NC_000022.9:g.40254498G>A NCBI36
NG_032143.1:g.64424G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216254.9:c.2278G>A (ACO2) MANE Select ENSP00000216254.4:p.Glu760Lys
ENST00000355209.9:c.*735C>T (POLR3H) MANE Select ENSP00000347345.4:n.*735C>T
ENST00000676664.1:c.2341G>A (ACO2) ENSP00000503709.1:n.2341G>A
ENST00000676714.1:c.*2196G>A (ACO2) ENSP00000504699.1:n.*2196G>A
ENST00000676748.1:c.2179G>A (ACO2) ENSP00000503371.1:p.Glu727Lys
ENST00000676792.1:c.2113G>A (ACO2) ENSP00000503590.1:p.Glu705Lys
ENST00000676822.1:n.2526G>A (ACO2)
ENST00000676883.1:n.2297G>A (ACO2)
ENST00000676959.1:c.*735G>A (ACO2) ENSP00000504377.1:n.*735G>A
ENST00000677007.1:c.*1053G>A (ACO2) ENSP00000504634.1:n.*1053G>A
ENST00000677153.1:c.2179G>A (ACO2) ENSP00000504453.1:p.Glu727Lys
ENST00000677492.1:n.3237G>A (ACO2)
ENST00000677516.1:c.*1677G>A (ACO2) ENSP00000503370.1:n.*1677G>A
ENST00000677532.1:c.2302G>A (ACO2) ENSP00000503471.1:p.Glu768Lys
ENST00000677554.1:c.2086G>A (ACO2) ENSP00000504513.1:p.Glu696Lys
ENST00000677698.1:c.2651G>A (ACO2)
ENST00000678269.1:c.2353G>A (ACO2) ENSP00000504150.1:p.Glu785Lys
ENST00000678394.1:n.2993G>A (ACO2)
ENST00000678600.1:n.2799G>A (ACO2)
ENST00000678688.1:c.*1514G>A (ACO2) ENSP00000503990.1:n.*1514G>A
ENST00000678788.1:c.2263G>A (ACO2) ENSP00000504684.1:p.Glu755Lys
ENST00000678819.1:c.*2141G>A (ACO2) ENSP00000503199.1:n.*2141G>A
ENST00000679264.1:n.3259G>A (ACO2)
ENST00000679284.1:n.2171G>A (ACO2)
ENST00000679311.1:n.2525G>A (ACO2)
ENST00000679320.1:c.*146G>A (ACO2) ENSP00000504780.1:n.*146G>A
ENST00000216254.8:c.2278G>A (ACO2) ENSP00000216254.4:p.Glu760Lys
ENST00000355209.8:c.*735C>T (POLR3H) ENSP00000347345.4:n.*735C>T
ENST00000396504.6:c.*735C>T (POLR3H) ENSP00000379761.2:n.*735C>T
ENST00000396512.3:c.2353G>A (ACO2) ENSP00000379769.3:p.Glu785Lys
NM_001018050.3:c.*735C>T (POLR3H) NP_001018060.1:n.*735C>T
NM_001018052.3:c.*735C>T (POLR3H) NP_001018062.1:n.*735C>T
NM_001098.2:c.2278G>A (ACO2) NP_001089.1:p.Glu760Lys
NM_001282884.1:c.*735C>T (POLR3H) NP_001269813.1:n.*735C>T
NM_001282885.1:c.*735C>T (POLR3H) NP_001269814.1:n.*735C>T
NM_138338.4:c.*735C>T (POLR3H) NP_612211.1:n.*735C>T
XM_017028812.1:c.2179G>A (ACO2) XP_016884301.1:p.Glu727Lys
XM_024452250.1:c.2278G>A (ACO2) XP_024308018.1:p.Glu760Lys
NM_001018050.4:c.*735C>T (POLR3H) MANE Select NP_001018060.1:n.*735C>T
NM_001098.3:c.2278G>A (ACO2) MANE Select NP_001089.1:p.Glu760Lys
NM_001018052.4:c.*735C>T (POLR3H) NP_001018062.1:n.*735C>T
NM_001282884.2:c.*735C>T (POLR3H) NP_001269813.1:n.*735C>T
NM_001282885.2:c.*735C>T (POLR3H) NP_001269814.1:n.*735C>T
NM_138338.5:c.*735C>T (POLR3H) NP_612211.1:n.*735C>T