Canonical Allele Identifier: CA393753686

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321181G>A , CM000677.2:g.89321181G>A	GRCh38
NC_000015.9:g.89864412G>A , CM000677.1:g.89864412G>A	GRCh37
NC_000015.8:g.87665416G>A	NCBI36
NG_008218.1:g.18615C>T
NG_008218.2:g.18615C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2678C>T MANE Select	NP_002684.1:p.Ser893Phe
ENST00000268124.11:c.2678C>T MANE Select	ENSP00000268124.5:p.Ser893Phe
NM_001126131.1:c.2678C>T	NP_001119603.1:p.Ser893Phe
NM_001126131.2:c.2678C>T	NP_001119603.1:p.Ser893Phe
NM_002693.2:c.2678C>T	NP_002684.1:p.Ser893Phe
ENST00000268124.9:c.2678C>T	ENSP00000268124.5:p.Ser893Phe
ENST00000442287.6:c.2678C>T	ENSP00000399851.2:p.Ser893Phe
ENST00000528881.2:c.275C>T
ENST00000530292.3:c.2279C>T	ENSP00000432885.2:p.Ser760Phe
ENST00000530715.5:c.186-312C>T	ENSP00000431395.1:n.186-312C>T
ENST00000631044.2:c.*2102C>T	ENSP00000486730.1:n.*2102C>T
ENST00000635986.2:c.2678C>T	ENSP00000490653.2:p.Ser893Phe
ENST00000636774.1:c.*1245C>T	ENSP00000489799.1:n.*1245C>T
ENST00000636937.2:c.2678C>T	ENSP00000516154.1:p.Ser893Phe
ENST00000637238.1:c.1375C>T	ENSP00000490756.1:n.1375C>T
ENST00000637264.1:c.1750C>T
ENST00000666746.1:c.2255C>T
ENST00000670281.1:c.800+781C>T	ENSP00000499709.1:n.800+781C>T
ENST00000672071.1:n.2876C>T
ENST00000672923.2:n.2620C>T