Canonical Allele Identifier: CA393751242

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319227C>A , CM000677.2:g.89319227C>A	GRCh38
NC_000015.9:g.89862458C>A , CM000677.1:g.89862458C>A	GRCh37
NC_000015.8:g.87663462C>A	NCBI36
NG_008218.1:g.20569G>T
NG_008218.2:g.20569G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.3104+1G>T MANE Select	NP_002684.1:n.3104+1G>T
ENST00000268124.11:c.3104+1G>T MANE Select	ENSP00000268124.5:n.3104+1G>T
NM_001126131.1:c.3104+1G>T	NP_001119603.1:n.3104+1G>T
NM_001126131.2:c.3104+1G>T	NP_001119603.1:n.3104+1G>T
NM_002693.2:c.3104+1G>T	NP_002684.1:n.3104+1G>T
ENST00000268124.9:c.3104+1G>T	ENSP00000268124.5:n.3104+1G>T
ENST00000442287.6:c.3104+1G>T	ENSP00000399851.2:n.3104+1G>T
ENST00000530292.2:c.188+1G>T	ENSP00000432885.1:n.188+1G>T
ENST00000530292.3:c.2705+1G>T	ENSP00000432885.2:n.2705+1G>T
ENST00000631044.2:c.*2528+1G>T	ENSP00000486730.1:n.*2528+1G>T
ENST00000635986.2:c.*174+1G>T	ENSP00000490653.2:n.*174+1G>T
ENST00000636530.1:n.64+1G>T
ENST00000636774.1:c.*1671+1G>T	ENSP00000489799.1:n.*1671+1G>T
ENST00000636937.2:c.3104+1G>T	ENSP00000516154.1:n.3104+1G>T
ENST00000637238.1:c.1913+1G>T	ENSP00000490756.1:n.1913+1G>T
ENST00000637264.1:c.2176+1G>T
ENST00000666746.1:c.2681+1G>T
ENST00000672071.1:n.3302+1G>T
ENST00000672695.1:n.281+1G>T
ENST00000672923.2:n.3104+1G>T