Canonical Allele Identifier: CA2194547637
Community Standard Title: NM_002693.3(POLG):c.2915G= (p.Arg972=)
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89320832C= , CM000677.2:g.89320832C= GRCh38
NC_000015.9:g.89864063C= , CM000677.1:g.89864063C= GRCh37
NC_000015.8:g.87665067C= NCBI36
NG_008218.1:g.18964G=
NG_008218.2:g.18964G=

Transcript Alleles

HGVS Amino-acid Change
NM_002693.3:c.2915G= MANE Select NP_002684.1:p.Arg972=
ENST00000268124.11:c.2915G= MANE Select ENSP00000268124.5:p.Arg972=
NM_001126131.1:c.2915G= NP_001119603.1:p.Arg972=
NM_001126131.2:c.2915G= NP_001119603.1:p.Arg972=
NM_002693.2:c.2915G= NP_002684.1:p.Arg972=
ENST00000268124.9:c.2915G= ENSP00000268124.5:p.Arg972=
ENST00000442287.6:c.2915G= ENSP00000399851.2:p.Arg972=
ENST00000528881.2:c.512G=
ENST00000530292.3:c.2516G= ENSP00000432885.2:p.Arg839=
ENST00000530715.5:c.223G= ENSP00000431395.1:n.223G=
ENST00000631044.2:c.*2339G= ENSP00000486730.1:n.*2339G=
ENST00000635986.2:c.2915G= ENSP00000490653.2:p.Arg972=
ENST00000636774.1:c.*1482G= ENSP00000489799.1:n.*1482G=
ENST00000636937.2:c.2915G= ENSP00000516154.1:p.Arg972=
ENST00000637238.1:c.1724G= ENSP00000490756.1:n.1724G=
ENST00000637264.1:c.1987G=
ENST00000666746.1:c.2492G=
ENST00000670281.1:c.800+1130G= ENSP00000499709.1:n.800+1130G=
ENST00000672071.1:n.3113G=
ENST00000672695.1:n.92G=
ENST00000672923.2:n.2857G=