Canonical Allele Identifier: CA393770103

Gene: POLG POLGARF

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333095C>A , CM000677.2:g.89333095C>A	GRCh38
NC_000015.9:g.89876326C>A , CM000677.1:g.89876326C>A	GRCh37
NC_000015.8:g.87677330C>A	NCBI36
NG_008218.1:g.6701G>T
NG_008218.2:g.6701G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.659+1G>T (POLG) MANE Select	NP_002684.1:n.659+1G>T
ENST00000268124.11:c.659+1G>T (POLG) MANE Select	ENSP00000268124.5:n.659+1G>T
NM_001126131.1:c.659+1G>T (POLG)	NP_001119603.1:n.659+1G>T
NM_001126131.2:c.659+1G>T (POLG)	NP_001119603.1:n.659+1G>T
NM_002693.2:c.659+1G>T (POLG)	NP_002684.1:n.659+1G>T
ENST00000268124.9:c.659+1G>T (POLG)	ENSP00000268124.5:n.659+1G>T
ENST00000442287.6:c.659+1G>T (POLG)	ENSP00000399851.2:n.659+1G>T
ENST00000530292.3:c.260+1G>T (POLG)	ENSP00000432885.2:n.260+1G>T
ENST00000631044.2:c.659+1G>T (POLG)	ENSP00000486730.1:n.659+1G>T
ENST00000635986.2:c.659+1G>T (POLG)	ENSP00000490653.2:n.659+1G>T
ENST00000636774.1:c.659+1G>T (POLG)	ENSP00000489799.1:n.659+1G>T
ENST00000636937.2:c.659+1G>T (POLG)	ENSP00000516154.1:n.659+1G>T
ENST00000637307.1:c.49+1G>T (POLG)
ENST00000650303.2:c.714+1G>T (POLG)	ENSP00000497242.2:n.714+1G>T
ENST00000666746.1:c.316+1G>T (POLG)
ENST00000672071.1:n.857+1G>T (POLG)
ENST00000706918.1:c.714+1G>T (POLGARF)	ENSP00000516626.1:n.714+1G>T