Canonical Allele Identifier: CA393759208

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325539C>T , CM000677.2:g.89325539C>T	GRCh38
NC_000015.9:g.89868770C>T , CM000677.1:g.89868770C>T	GRCh37
NC_000015.8:g.87669774C>T	NCBI36
NG_008218.1:g.14257G>A
NG_008218.2:g.14257G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.1860G>A MANE Select	NP_002684.1:p.Trp620Ter
ENST00000268124.11:c.1860G>A MANE Select	ENSP00000268124.5:p.Trp620Ter
NM_001126131.1:c.1860G>A	NP_001119603.1:p.Trp620Ter
NM_001126131.2:c.1860G>A	NP_001119603.1:p.Trp620Ter
NM_002693.2:c.1860G>A	NP_002684.1:p.Trp620Ter
ENST00000268124.9:c.1860G>A	ENSP00000268124.5:p.Trp620Ter
ENST00000442287.6:c.1860G>A	ENSP00000399851.2:p.Trp620Ter
ENST00000526314.2:c.242G>A
ENST00000526398.1:c.49G>A
ENST00000530292.3:c.1461G>A	ENSP00000432885.2:p.Trp487Ter
ENST00000532584.5:n.62G>A
ENST00000631044.2:c.*1243G>A	ENSP00000486730.1:n.*1243G>A
ENST00000635986.2:c.1860G>A	ENSP00000490653.2:p.Trp620Ter
ENST00000636774.1:c.*427G>A	ENSP00000489799.1:n.*427G>A
ENST00000636937.2:c.1860G>A	ENSP00000516154.1:p.Trp620Ter
ENST00000637238.1:c.597G>A	ENSP00000490756.1:p.Trp199Ter
ENST00000637264.1:c.932G>A
ENST00000666746.1:c.1437G>A
ENST00000670281.1:c.180G>A	ENSP00000499709.1:p.Trp60Ter
ENST00000672071.1:n.2058G>A
ENST00000672923.2:n.1963G>A