Canonical Allele Identifier: CA2194541236

Gene: POLG

Linked Data

• dbSNP Id: rs2055338483
• gnomAD v4: 15-89318435-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318435C>G , CM000677.2:g.89318435C>G	GRCh38
NC_000015.9:g.89861666C>G , CM000677.1:g.89861666C>G	GRCh37
NC_000015.8:g.87662670C>G	NCBI36
NG_008218.1:g.21361G>C
NG_011736.1:g.79473C>G , LRG_500:g.79473C>G
NG_008218.2:g.21361G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+106G>C	ENSP00000516154.1:n.3482+106G>C
ENST00000268124.11:c.3482+106G>C MANE Select	ENSP00000268124.5:n.3482+106G>C
ENST00000530292.3:c.3083+106G>C	ENSP00000432885.2:n.3083+106G>C
ENST00000635986.2:c.*552+106G>C	ENSP00000490653.2:n.*552+106G>C
ENST00000636774.1:c.*2049+106G>C	ENSP00000489799.1:n.*2049+106G>C
ENST00000637238.1:c.2291+106G>C	ENSP00000490756.1:n.2291+106G>C
ENST00000637264.1:c.2554+106G>C
ENST00000666746.1:c.3059+106G>C
ENST00000672071.1:n.3786G>C
ENST00000672695.1:n.765G>C
ENST00000672923.2:n.3482+106G>C
ENST00000268124.9:c.3482+106G>C	ENSP00000268124.5:n.3482+106G>C
ENST00000442287.6:c.3482+106G>C	ENSP00000399851.2:n.3482+106G>C
ENST00000530292.2:c.566+106G>C	ENSP00000432885.1:n.566+106G>C
ENST00000631044.2:c.*2906+106G>C	ENSP00000486730.1:n.*2906+106G>C
NM_001126131.1:c.3482+106G>C	NP_001119603.1:n.3482+106G>C
NM_002693.2:c.3482+106G>C	NP_002684.1:n.3482+106G>C
NM_001126131.2:c.3482+106G>C	NP_001119603.1:n.3482+106G>C
NM_002693.3:c.3482+106G>C MANE Select	NP_002684.1:n.3482+106G>C