Canonical Allele Identifier: CA393760505

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89326655C>G , CM000677.2:g.89326655C>G	GRCh38
NC_000015.9:g.89869886C>G , CM000677.1:g.89869886C>G	GRCh37
NC_000015.8:g.87670890C>G	NCBI36
NG_008218.1:g.13141G>C
NG_008218.2:g.13141G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.1669G>C MANE Select	NP_002684.1:p.Glu557Gln
ENST00000268124.11:c.1669G>C MANE Select	ENSP00000268124.5:p.Glu557Gln
NM_001126131.1:c.1669G>C	NP_001119603.1:p.Glu557Gln
NM_001126131.2:c.1669G>C	NP_001119603.1:p.Glu557Gln
NM_002693.2:c.1669G>C	NP_002684.1:p.Glu557Gln
ENST00000268124.9:c.1669G>C	ENSP00000268124.5:p.Glu557Gln
ENST00000442287.6:c.1669G>C	ENSP00000399851.2:p.Glu557Gln
ENST00000526314.2:c.51G>C
ENST00000530292.3:c.1270G>C	ENSP00000432885.2:p.Glu424Gln
ENST00000631044.2:c.*1052G>C	ENSP00000486730.1:n.*1052G>C
ENST00000635986.2:c.1669G>C	ENSP00000490653.2:p.Glu557Gln
ENST00000636774.1:c.*236G>C	ENSP00000489799.1:n.*236G>C
ENST00000636937.2:c.1669G>C	ENSP00000516154.1:p.Glu557Gln
ENST00000637238.1:c.406G>C	ENSP00000490756.1:p.Glu136Gln
ENST00000637264.1:c.741G>C
ENST00000666746.1:c.1246G>C
ENST00000672071.1:n.1867G>C
ENST00000672923.2:n.1772G>C