Canonical Allele Identifier: CA393749735
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318587G>T , CM000677.2:g.89318587G>T GRCh38
NC_000015.9:g.89861818G>T , CM000677.1:g.89861818G>T GRCh37
NC_000015.8:g.87662822G>T NCBI36
NG_008218.1:g.21209C>A
NG_011736.1:g.79625G>T , LRG_500:g.79625G>T
NG_008218.2:g.21209C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.3436C>A ENSP00000516154.1:p.Arg1146Ser
ENST00000268124.11:c.3436C>A MANE Select ENSP00000268124.5:p.Arg1146Ser
ENST00000530292.3:c.3037C>A ENSP00000432885.2:p.Arg1013Ser
ENST00000635986.2:c.*506C>A ENSP00000490653.2:n.*506C>A
ENST00000636774.1:c.*2003C>A ENSP00000489799.1:n.*2003C>A
ENST00000637238.1:c.2245C>A ENSP00000490756.1:n.2245C>A
ENST00000637264.1:c.2508C>A
ENST00000666746.1:c.3013C>A
ENST00000672071.1:n.3634C>A
ENST00000672695.1:n.613C>A
ENST00000672923.2:n.3436C>A
ENST00000268124.9:c.3436C>A ENSP00000268124.5:p.Arg1146Ser
ENST00000442287.6:c.3436C>A ENSP00000399851.2:p.Arg1146Ser
ENST00000530292.2:c.520C>A ENSP00000432885.1:p.Arg174Ser
ENST00000631044.2:c.*2860C>A ENSP00000486730.1:n.*2860C>A
NM_001126131.1:c.3436C>A NP_001119603.1:p.Arg1146Ser
NM_002693.2:c.3436C>A NP_002684.1:p.Arg1146Ser
NM_001126131.2:c.3436C>A NP_001119603.1:p.Arg1146Ser
NM_002693.3:c.3436C>A MANE Select NP_002684.1:p.Arg1146Ser