Canonical Allele Identifier: CA2843123978

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318520G>T , CM000677.2:g.89318520G>T	GRCh38
NC_000015.9:g.89861751G>T , CM000677.1:g.89861751G>T	GRCh37
NC_000015.8:g.87662755G>T	NCBI36
NG_008218.1:g.21276C>A
NG_011736.1:g.79558G>T , LRG_500:g.79558G>T
NG_008218.2:g.21276C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+21C>A	ENSP00000516154.1:n.3482+21C>A
ENST00000268124.11:c.3482+21C>A MANE Select	ENSP00000268124.5:n.3482+21C>A
ENST00000530292.3:c.3083+21C>A	ENSP00000432885.2:n.3083+21C>A
ENST00000635986.2:c.*552+21C>A	ENSP00000490653.2:n.*552+21C>A
ENST00000636774.1:c.*2049+21C>A	ENSP00000489799.1:n.*2049+21C>A
ENST00000637238.1:c.2291+21C>A	ENSP00000490756.1:n.2291+21C>A
ENST00000637264.1:c.2554+21C>A
ENST00000666746.1:c.3059+21C>A
ENST00000672071.1:n.3701C>A
ENST00000672695.1:n.680C>A
ENST00000672923.2:n.3482+21C>A
ENST00000268124.9:c.3482+21C>A	ENSP00000268124.5:n.3482+21C>A
ENST00000442287.6:c.3482+21C>A	ENSP00000399851.2:n.3482+21C>A
ENST00000530292.2:c.566+21C>A	ENSP00000432885.1:n.566+21C>A
ENST00000631044.2:c.*2906+21C>A	ENSP00000486730.1:n.*2906+21C>A
NM_001126131.1:c.3482+21C>A	NP_001119603.1:n.3482+21C>A
NM_002693.2:c.3482+21C>A	NP_002684.1:n.3482+21C>A
NM_001126131.2:c.3482+21C>A	NP_001119603.1:n.3482+21C>A
NM_002693.3:c.3482+21C>A MANE Select	NP_002684.1:n.3482+21C>A