Canonical Allele Identifier: CA2838267715

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318494C>A , CM000677.2:g.89318494C>A	GRCh38
NC_000015.9:g.89861725C>A , CM000677.1:g.89861725C>A	GRCh37
NC_000015.8:g.87662729C>A	NCBI36
NG_008218.1:g.21302G>T
NG_011736.1:g.79532C>A , LRG_500:g.79532C>A
NG_008218.2:g.21302G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+47G>T	ENSP00000516154.1:n.3482+47G>T
ENST00000268124.11:c.3482+47G>T MANE Select	ENSP00000268124.5:n.3482+47G>T
ENST00000530292.3:c.3083+47G>T	ENSP00000432885.2:n.3083+47G>T
ENST00000635986.2:c.*552+47G>T	ENSP00000490653.2:n.*552+47G>T
ENST00000636774.1:c.*2049+47G>T	ENSP00000489799.1:n.*2049+47G>T
ENST00000637238.1:c.2291+47G>T	ENSP00000490756.1:n.2291+47G>T
ENST00000637264.1:c.2554+47G>T
ENST00000666746.1:c.3059+47G>T
ENST00000672071.1:n.3727G>T
ENST00000672695.1:n.706G>T
ENST00000672923.2:n.3482+47G>T
ENST00000268124.9:c.3482+47G>T	ENSP00000268124.5:n.3482+47G>T
ENST00000442287.6:c.3482+47G>T	ENSP00000399851.2:n.3482+47G>T
ENST00000530292.2:c.566+47G>T	ENSP00000432885.1:n.566+47G>T
ENST00000631044.2:c.*2906+47G>T	ENSP00000486730.1:n.*2906+47G>T
NM_001126131.1:c.3482+47G>T	NP_001119603.1:n.3482+47G>T
NM_002693.2:c.3482+47G>T	NP_002684.1:n.3482+47G>T
NM_001126131.2:c.3482+47G>T	NP_001119603.1:n.3482+47G>T
NM_002693.3:c.3482+47G>T MANE Select	NP_002684.1:n.3482+47G>T