Canonical Allele Identifier: CA2630254350

Gene: POLG

Linked Data

• gnomAD v4: 15-89321656-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321656A>G , CM000677.2:g.89321656A>G	GRCh38
NC_000015.9:g.89864887A>G , CM000677.1:g.89864887A>G	GRCh37
NC_000015.8:g.87665891A>G	NCBI36
NG_008218.1:g.18140T>C
NG_008218.2:g.18140T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2598+80T>C	ENSP00000516154.1:n.2598+80T>C
ENST00000268124.11:c.2598+80T>C MANE Select	ENSP00000268124.5:n.2598+80T>C
ENST00000530292.3:c.2199+80T>C	ENSP00000432885.2:n.2199+80T>C
ENST00000635986.2:c.2598+80T>C	ENSP00000490653.2:n.2598+80T>C
ENST00000636774.1:c.*1165+80T>C	ENSP00000489799.1:n.*1165+80T>C
ENST00000637238.1:c.1295+80T>C	ENSP00000490756.1:n.1295+80T>C
ENST00000637264.1:c.1670+80T>C
ENST00000666746.1:c.2175+80T>C
ENST00000670281.1:c.800+306T>C	ENSP00000499709.1:n.800+306T>C
ENST00000672071.1:n.2796+80T>C
ENST00000672923.2:n.2540+80T>C
ENST00000268124.9:c.2598+80T>C	ENSP00000268124.5:n.2598+80T>C
ENST00000442287.6:c.2598+80T>C	ENSP00000399851.2:n.2598+80T>C
ENST00000528881.2:c.196-396T>C
ENST00000530715.5:c.186-787T>C	ENSP00000431395.1:n.186-787T>C
ENST00000631044.2:c.*2022+80T>C	ENSP00000486730.1:n.*2022+80T>C
NM_001126131.1:c.2598+80T>C	NP_001119603.1:n.2598+80T>C
NM_002693.2:c.2598+80T>C	NP_002684.1:n.2598+80T>C
NM_001126131.2:c.2598+80T>C	NP_001119603.1:n.2598+80T>C
NM_002693.3:c.2598+80T>C MANE Select	NP_002684.1:n.2598+80T>C