Canonical Allele Identifier: CA2194538473

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317176A>G , CM000677.2:g.89317176A>G GRCh38
NC_000015.9:g.89860407A>G , CM000677.1:g.89860407A>G GRCh37
NC_000015.8:g.87661411A>G NCBI36
NG_008218.1:g.22620T>C
NG_011736.1:g.78214A>G , LRG_500:g.78214A>G
NG_008218.2:g.22620T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3643+200T>C (POLG) ENSP00000516154.1:n.3643+200T>C
ENST00000268124.11:c.3643+200T>C (POLG) MANE Select ENSP00000268124.5:n.3643+200T>C
ENST00000530292.3:c.3343+200T>C (POLG) ENSP00000432885.2:n.3343+200T>C
ENST00000635986.2:c.*713+200T>C (POLG) ENSP00000490653.2:n.*713+200T>C
ENST00000636774.1:c.*2247+200T>C (POLG) ENSP00000489799.1:n.*2247+200T>C
ENST00000637238.1:c.2551+200T>C (POLG) ENSP00000490756.1:n.2551+200T>C
ENST00000637264.1:c.2655+200T>C (POLG)
ENST00000666746.1:c.3220+200T>C (POLG)
ENST00000672071.1:n.4845+200T>C (POLG)
ENST00000672695.1:n.1422+200T>C (POLG)
ENST00000672923.2:n.3643+200T>C (POLG)
ENST00000268124.9:c.3643+200T>C (POLG) ENSP00000268124.5:n.3643+200T>C
ENST00000300027.12:c.*717A>G (FANCI) ENSP00000300027.8:n.*717A>G
ENST00000442287.6:c.3643+200T>C (POLG) ENSP00000399851.2:n.3643+200T>C
ENST00000526671.1:n.453+200T>C (POLG)
ENST00000530292.2:c.826+200T>C (POLG) ENSP00000432885.1:n.826+200T>C
ENST00000631044.2:c.*3067+200T>C (POLG) ENSP00000486730.1:n.*3067+200T>C
NM_001126131.1:c.3643+200T>C (POLG) NP_001119603.1:n.3643+200T>C
NM_002693.2:c.3643+200T>C (POLG) NP_002684.1:n.3643+200T>C
NM_001126131.2:c.3643+200T>C (POLG) NP_001119603.1:n.3643+200T>C
NM_018193.3:c.*717A>G (FANCI) NP_060663.2:n.*717A>G
NM_002693.3:c.3643+200T>C (POLG) MANE Select NP_002684.1:n.3643+200T>C