Canonical Allele Identifier: CA393765581

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328999G>A , CM000677.2:g.89328999G>A	GRCh38
NC_000015.9:g.89872230G>A , CM000677.1:g.89872230G>A	GRCh37
NC_000015.8:g.87673234G>A	NCBI36
NG_008218.1:g.10797C>T
NG_008218.2:g.10797C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.967C>T MANE Select	NP_002684.1:p.Gln323Ter
ENST00000268124.11:c.967C>T MANE Select	ENSP00000268124.5:p.Gln323Ter
NM_001126131.1:c.967C>T	NP_001119603.1:p.Gln323Ter
NM_001126131.2:c.967C>T	NP_001119603.1:p.Gln323Ter
NM_002693.2:c.967C>T	NP_002684.1:p.Gln323Ter
ENST00000268124.9:c.967C>T	ENSP00000268124.5:p.Gln323Ter
ENST00000442287.6:c.967C>T	ENSP00000399851.2:p.Gln323Ter
ENST00000530292.3:c.568C>T	ENSP00000432885.2:p.Gln190Ter
ENST00000631044.2:c.*350C>T	ENSP00000486730.1:n.*350C>T
ENST00000635986.2:c.967C>T	ENSP00000490653.2:p.Gln323Ter
ENST00000636774.1:c.967C>T	ENSP00000489799.1:p.Gln323Ter
ENST00000636937.2:c.967C>T	ENSP00000516154.1:p.Gln323Ter
ENST00000637264.1:c.39C>T
ENST00000666746.1:c.624C>T
ENST00000672071.1:n.1165C>T