Canonical Allele Identifier: CA10257919
Community Standard Title: NM_001018050.4(POLR3H):c.*1250G>A

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41528033C>T , CM000684.2:g.41528033C>T GRCh38
NC_000022.10:g.41924037C>T , CM000684.1:g.41924037C>T GRCh37
NC_000022.9:g.40253983C>T NCBI36
NG_032143.1:g.63909C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001018050.4:c.*1250G>A (POLR3H) MANE Select NP_001018060.1:n.*1250G>A
NM_001098.3:c.2208+11C>T (ACO2) MANE Select NP_001089.1:n.2208+11C>T
ENST00000216254.9:c.2208+11C>T (ACO2) MANE Select ENSP00000216254.4:n.2208+11C>T
ENST00000355209.9:c.*1250G>A (POLR3H) MANE Select ENSP00000347345.4:n.*1250G>A
NM_001018050.3:c.*1250G>A (POLR3H) NP_001018060.1:n.*1250G>A
NM_001018052.3:c.*1250G>A (POLR3H) NP_001018062.1:n.*1250G>A
NM_001018052.4:c.*1250G>A (POLR3H) NP_001018062.1:n.*1250G>A
NM_001098.2:c.2208+11C>T (ACO2) NP_001089.1:n.2208+11C>T
NM_001282884.1:c.*1250G>A (POLR3H) NP_001269813.1:n.*1250G>A
NM_001282884.2:c.*1250G>A (POLR3H) NP_001269813.1:n.*1250G>A
NM_001282885.1:c.*1250G>A (POLR3H) NP_001269814.1:n.*1250G>A
NM_001282885.2:c.*1250G>A (POLR3H) NP_001269814.1:n.*1250G>A
NM_138338.4:c.*1250G>A (POLR3H) NP_612211.1:n.*1250G>A
NM_138338.5:c.*1250G>A (POLR3H) NP_612211.1:n.*1250G>A
ENST00000216254.8:c.2208+11C>T (ACO2) ENSP00000216254.4:n.2208+11C>T
ENST00000355209.8:c.*1250G>A (POLR3H) ENSP00000347345.4:n.*1250G>A
ENST00000396504.6:c.*1250G>A (POLR3H) ENSP00000379761.2:n.*1250G>A
ENST00000396512.3:c.2283+11C>T (ACO2) ENSP00000379769.3:n.2283+11C>T
ENST00000676664.1:c.2271+11C>T (ACO2) ENSP00000503709.1:n.2271+11C>T
ENST00000676714.1:c.*2126+11C>T (ACO2) ENSP00000504699.1:n.*2126+11C>T
ENST00000676748.1:c.2109+11C>T (ACO2) ENSP00000503371.1:n.2109+11C>T
ENST00000676792.1:c.2043+11C>T (ACO2) ENSP00000503590.1:n.2043+11C>T
ENST00000676822.1:n.2456+11C>T (ACO2)
ENST00000676883.1:n.2227+11C>T (ACO2)
ENST00000676959.1:c.*665+11C>T (ACO2) ENSP00000504377.1:n.*665+11C>T
ENST00000677007.1:c.*983+11C>T (ACO2) ENSP00000504634.1:n.*983+11C>T
ENST00000677153.1:c.2109+11C>T (ACO2) ENSP00000504453.1:n.2109+11C>T
ENST00000677492.1:n.3167+11C>T (ACO2)
ENST00000677516.1:c.*1607+11C>T (ACO2) ENSP00000503370.1:n.*1607+11C>T
ENST00000677532.1:c.2232+11C>T (ACO2) ENSP00000503471.1:n.2232+11C>T
ENST00000677554.1:c.2016+11C>T (ACO2) ENSP00000504513.1:n.2016+11C>T
ENST00000677698.1:c.2581+11C>T (ACO2)
ENST00000678269.1:c.2283+11C>T (ACO2) ENSP00000504150.1:n.2283+11C>T
ENST00000678394.1:n.2923+11C>T (ACO2)
ENST00000678600.1:n.2729+11C>T (ACO2)
ENST00000678688.1:c.*1444+11C>T (ACO2) ENSP00000503990.1:n.*1444+11C>T
ENST00000678788.1:c.2193+11C>T (ACO2) ENSP00000504684.1:n.2193+11C>T
ENST00000678819.1:c.*2071+11C>T (ACO2) ENSP00000503199.1:n.*2071+11C>T
ENST00000679264.1:n.3189+11C>T (ACO2)
ENST00000679284.1:n.2101+11C>T (ACO2)
ENST00000679311.1:n.2455+11C>T (ACO2)
ENST00000679320.1:c.*76+11C>T (ACO2) ENSP00000504780.1:n.*76+11C>T
XM_017028812.1:c.2109+11C>T (ACO2) XP_016884301.1:n.2109+11C>T
XM_024452250.1:c.2208+11C>T (ACO2) XP_024308018.1:n.2208+11C>T