Canonical Allele Identifier: CA2630251269

Gene: POLG

Linked Data

• gnomAD v4: 15-89318419-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318419G>A , CM000677.2:g.89318419G>A	GRCh38
NC_000015.9:g.89861650G>A , CM000677.1:g.89861650G>A	GRCh37
NC_000015.8:g.87662654G>A	NCBI36
NG_008218.1:g.21377C>T
NG_011736.1:g.79457G>A , LRG_500:g.79457G>A
NG_008218.2:g.21377C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+122C>T	ENSP00000516154.1:n.3482+122C>T
ENST00000268124.11:c.3482+122C>T MANE Select	ENSP00000268124.5:n.3482+122C>T
ENST00000530292.3:c.3083+122C>T	ENSP00000432885.2:n.3083+122C>T
ENST00000635986.2:c.*552+122C>T	ENSP00000490653.2:n.*552+122C>T
ENST00000636774.1:c.*2049+122C>T	ENSP00000489799.1:n.*2049+122C>T
ENST00000637238.1:c.2291+122C>T	ENSP00000490756.1:n.2291+122C>T
ENST00000637264.1:c.2554+122C>T
ENST00000666746.1:c.3059+122C>T
ENST00000672071.1:n.3802C>T
ENST00000672695.1:n.781C>T
ENST00000672923.2:n.3482+122C>T
ENST00000268124.9:c.3482+122C>T	ENSP00000268124.5:n.3482+122C>T
ENST00000442287.6:c.3482+122C>T	ENSP00000399851.2:n.3482+122C>T
ENST00000530292.2:c.566+122C>T	ENSP00000432885.1:n.566+122C>T
ENST00000631044.2:c.*2906+122C>T	ENSP00000486730.1:n.*2906+122C>T
NM_001126131.1:c.3482+122C>T	NP_001119603.1:n.3482+122C>T
NM_002693.2:c.3482+122C>T	NP_002684.1:n.3482+122C>T
NM_001126131.2:c.3482+122C>T	NP_001119603.1:n.3482+122C>T
NM_002693.3:c.3482+122C>T MANE Select	NP_002684.1:n.3482+122C>T