Canonical Allele Identifier: CA393761192

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327046C>T , CM000677.2:g.89327046C>T	GRCh38
NC_000015.9:g.89870277C>T , CM000677.1:g.89870277C>T	GRCh37
NC_000015.8:g.87671281C>T	NCBI36
NG_008218.1:g.12750G>A
NG_008218.2:g.12750G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.1451G>A MANE Select	NP_002684.1:p.Trp484Ter
ENST00000268124.11:c.1451G>A MANE Select	ENSP00000268124.5:p.Trp484Ter
NM_001126131.1:c.1451G>A	NP_001119603.1:p.Trp484Ter
NM_001126131.2:c.1451G>A	NP_001119603.1:p.Trp484Ter
NM_002693.2:c.1451G>A	NP_002684.1:p.Trp484Ter
ENST00000268124.9:c.1451G>A	ENSP00000268124.5:p.Trp484Ter
ENST00000442287.6:c.1451G>A	ENSP00000399851.2:p.Trp484Ter
ENST00000530292.3:c.1052G>A	ENSP00000432885.2:p.Trp351Ter
ENST00000532363.2:n.412G>A
ENST00000631044.2:c.*834G>A	ENSP00000486730.1:n.*834G>A
ENST00000635986.2:c.1451G>A	ENSP00000490653.2:p.Trp484Ter
ENST00000636774.1:c.*18G>A	ENSP00000489799.1:n.*18G>A
ENST00000636937.2:c.1451G>A	ENSP00000516154.1:p.Trp484Ter
ENST00000637238.1:c.188G>A	ENSP00000490756.1:p.Trp63Ter
ENST00000637264.1:c.523G>A
ENST00000666746.1:c.1028G>A
ENST00000672071.1:n.1649G>A
ENST00000672923.2:n.1554G>A