Canonical Allele Identifier: CA393747411
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317431A>T , CM000677.2:g.89317431A>T GRCh38
NC_000015.9:g.89860662A>T , CM000677.1:g.89860662A>T GRCh37
NC_000015.8:g.87661666A>T NCBI36
NG_008218.1:g.22365T>A
NG_011736.1:g.78469A>T , LRG_500:g.78469A>T
NG_008218.2:g.22365T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3588T>A ENSP00000516154.1:p.Asp1196Glu
ENST00000268124.11:c.3588T>A MANE Select ENSP00000268124.5:p.Asp1196Glu
ENST00000530292.3:c.3288T>A ENSP00000432885.2:n.3288T>A
ENST00000635986.2:c.*658T>A ENSP00000490653.2:n.*658T>A
ENST00000636774.1:c.*2192T>A ENSP00000489799.1:n.*2192T>A
ENST00000637238.1:c.2496T>A ENSP00000490756.1:n.2496T>A
ENST00000637264.1:c.2600T>A
ENST00000666746.1:c.3165T>A
ENST00000672071.1:n.4790T>A
ENST00000672695.1:n.1367T>A
ENST00000672923.2:n.3588T>A
ENST00000268124.9:c.3588T>A ENSP00000268124.5:p.Asp1196Glu
ENST00000442287.6:c.3588T>A ENSP00000399851.2:p.Asp1196Glu
ENST00000526671.1:n.398T>A
ENST00000530292.2:c.771T>A ENSP00000432885.1:n.771T>A
ENST00000631044.2:c.*3012T>A ENSP00000486730.1:n.*3012T>A
NM_001126131.1:c.3588T>A NP_001119603.1:p.Asp1196Glu
NM_002693.2:c.3588T>A NP_002684.1:p.Asp1196Glu
NM_001126131.2:c.3588T>A NP_001119603.1:p.Asp1196Glu
NM_002693.3:c.3588T>A MANE Select NP_002684.1:p.Asp1196Glu