Canonical Allele Identifier: CA393750221
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318737G>T , CM000677.2:g.89318737G>T GRCh38
NC_000015.9:g.89861968G>T , CM000677.1:g.89861968G>T GRCh37
NC_000015.8:g.87662972G>T NCBI36
NG_008218.1:g.21059C>A
NG_011736.1:g.79775G>T , LRG_500:g.79775G>T
NG_008218.2:g.21059C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3286C>A ENSP00000516154.1:p.Arg1096Ser
ENST00000268124.11:c.3286C>A MANE Select ENSP00000268124.5:p.Arg1096Ser
ENST00000530292.3:c.2887C>A ENSP00000432885.2:p.Arg963Ser
ENST00000635986.2:c.*356C>A ENSP00000490653.2:n.*356C>A
ENST00000636774.1:c.*1853C>A ENSP00000489799.1:n.*1853C>A
ENST00000637238.1:c.2095C>A ENSP00000490756.1:n.2095C>A
ENST00000637264.1:c.2358C>A
ENST00000666746.1:c.2863C>A
ENST00000672071.1:n.3484C>A
ENST00000672695.1:n.463C>A
ENST00000672923.2:n.3286C>A
ENST00000268124.9:c.3286C>A ENSP00000268124.5:p.Arg1096Ser
ENST00000442287.6:c.3286C>A ENSP00000399851.2:p.Arg1096Ser
ENST00000530292.2:c.370C>A ENSP00000432885.1:p.Arg124Ser
ENST00000631044.2:c.*2710C>A ENSP00000486730.1:n.*2710C>A
NM_001126131.1:c.3286C>A NP_001119603.1:p.Arg1096Ser
NM_002693.2:c.3286C>A NP_002684.1:p.Arg1096Ser
NM_001126131.2:c.3286C>A NP_001119603.1:p.Arg1096Ser
NM_002693.3:c.3286C>A MANE Select NP_002684.1:p.Arg1096Ser