Canonical Allele Identifier: CA10257855

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41527340C>T , CM000684.2:g.41527340C>T GRCh38
NC_000022.10:g.41923344C>T , CM000684.1:g.41923344C>T GRCh37
NC_000022.9:g.40253290C>T NCBI36
NG_032143.1:g.63216C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216254.9:c.2006C>T (ACO2) MANE Select ENSP00000216254.4:p.Ser669Leu
ENST00000355209.9:c.*1943G>A (POLR3H) MANE Select ENSP00000347345.4:n.*1943G>A
ENST00000676664.1:c.2069C>T (ACO2) ENSP00000503709.1:n.2069C>T
ENST00000676714.1:c.*1924C>T (ACO2) ENSP00000504699.1:n.*1924C>T
ENST00000676748.1:c.1907C>T (ACO2) ENSP00000503371.1:p.Ser636Leu
ENST00000676792.1:c.1841C>T (ACO2) ENSP00000503590.1:p.Ser614Leu
ENST00000676822.1:n.2254C>T (ACO2)
ENST00000676883.1:n.2025C>T (ACO2)
ENST00000676959.1:c.*463C>T (ACO2) ENSP00000504377.1:n.*463C>T
ENST00000677007.1:c.*781C>T (ACO2) ENSP00000504634.1:n.*781C>T
ENST00000677153.1:c.1907C>T (ACO2) ENSP00000504453.1:p.Ser636Leu
ENST00000677492.1:n.2965C>T (ACO2)
ENST00000677516.1:c.*1405C>T (ACO2) ENSP00000503370.1:n.*1405C>T
ENST00000677532.1:c.2030C>T (ACO2) ENSP00000503471.1:p.Ser677Leu
ENST00000677554.1:c.1814C>T (ACO2) ENSP00000504513.1:p.Ser605Leu
ENST00000677698.1:c.2379C>T (ACO2)
ENST00000678269.1:c.2081C>T (ACO2) ENSP00000504150.1:p.Ser694Leu
ENST00000678394.1:n.2721C>T (ACO2)
ENST00000678600.1:n.2047C>T (ACO2)
ENST00000678688.1:c.*1242C>T (ACO2) ENSP00000503990.1:n.*1242C>T
ENST00000678788.1:c.1991C>T (ACO2) ENSP00000504684.1:p.Ser664Leu
ENST00000678819.1:c.*1869C>T (ACO2) ENSP00000503199.1:n.*1869C>T
ENST00000679264.1:n.2987C>T (ACO2)
ENST00000679284.1:n.1899C>T (ACO2)
ENST00000679311.1:n.2253C>T (ACO2)
ENST00000679320.1:c.2070C>T (ACO2) ENSP00000504780.1:p.Leu690=
ENST00000216254.8:c.2006C>T (ACO2) ENSP00000216254.4:p.Ser669Leu
ENST00000355209.8:c.*1943G>A (POLR3H) ENSP00000347345.4:n.*1943G>A
ENST00000396504.6:c.*1943G>A (POLR3H) ENSP00000379761.2:n.*1943G>A
ENST00000396512.3:c.2081C>T (ACO2) ENSP00000379769.3:p.Ser694Leu
NM_001018050.3:c.*1943G>A (POLR3H) NP_001018060.1:n.*1943G>A
NM_001018052.3:c.*1943G>A (POLR3H) NP_001018062.1:n.*1943G>A
NM_001098.2:c.2006C>T (ACO2) NP_001089.1:p.Ser669Leu
NM_001282884.1:c.*1943G>A (POLR3H) NP_001269813.1:n.*1943G>A
NM_001282885.1:c.*1943G>A (POLR3H) NP_001269814.1:n.*1943G>A
NM_138338.4:c.*1943G>A (POLR3H) NP_612211.1:n.*1943G>A
XM_017028812.1:c.1907C>T (ACO2) XP_016884301.1:p.Ser636Leu
XM_024452250.1:c.2006C>T (ACO2) XP_024308018.1:p.Ser669Leu
NM_001018050.4:c.*1943G>A (POLR3H) MANE Select NP_001018060.1:n.*1943G>A
NM_001098.3:c.2006C>T (ACO2) MANE Select NP_001089.1:p.Ser669Leu
NM_001018052.4:c.*1943G>A (POLR3H) NP_001018062.1:n.*1943G>A
NM_001282884.2:c.*1943G>A (POLR3H) NP_001269813.1:n.*1943G>A
NM_001282885.2:c.*1943G>A (POLR3H) NP_001269814.1:n.*1943G>A
NM_138338.5:c.*1943G>A (POLR3H) NP_612211.1:n.*1943G>A