Canonical Allele Identifier: CA393749637

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318539A>G , CM000677.2:g.89318539A>G	GRCh38
NC_000015.9:g.89861770A>G , CM000677.1:g.89861770A>G	GRCh37
NC_000015.8:g.87662774A>G	NCBI36
NG_008218.1:g.21257T>C
NG_011736.1:g.79577A>G , LRG_500:g.79577A>G
NG_008218.2:g.21257T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.3482+2T>C MANE Select	NP_002684.1:n.3482+2T>C
ENST00000268124.11:c.3482+2T>C MANE Select	ENSP00000268124.5:n.3482+2T>C
NM_001126131.1:c.3482+2T>C	NP_001119603.1:n.3482+2T>C
NM_001126131.2:c.3482+2T>C	NP_001119603.1:n.3482+2T>C
NM_002693.2:c.3482+2T>C	NP_002684.1:n.3482+2T>C
ENST00000268124.9:c.3482+2T>C	ENSP00000268124.5:n.3482+2T>C
ENST00000442287.6:c.3482+2T>C	ENSP00000399851.2:n.3482+2T>C
ENST00000530292.2:c.566+2T>C	ENSP00000432885.1:n.566+2T>C
ENST00000530292.3:c.3083+2T>C	ENSP00000432885.2:n.3083+2T>C
ENST00000631044.2:c.*2906+2T>C	ENSP00000486730.1:n.*2906+2T>C
ENST00000635986.2:c.*552+2T>C	ENSP00000490653.2:n.*552+2T>C
ENST00000636774.1:c.*2049+2T>C	ENSP00000489799.1:n.*2049+2T>C
ENST00000636937.2:c.3482+2T>C	ENSP00000516154.1:n.3482+2T>C
ENST00000637238.1:c.2291+2T>C	ENSP00000490756.1:n.2291+2T>C
ENST00000637264.1:c.2554+2T>C
ENST00000666746.1:c.3059+2T>C
ENST00000672071.1:n.3682T>C
ENST00000672695.1:n.661T>C
ENST00000672923.2:n.3482+2T>C