Canonical Allele Identifier: CA2194563248

Gene: POLG

Linked Data

• dbSNP Id: rs2055564223
• gnomAD v4: 15-89329234-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89329234A>C , CM000677.2:g.89329234A>C	GRCh38
NC_000015.9:g.89872465A>C , CM000677.1:g.89872465A>C	GRCh37
NC_000015.8:g.87673469A>C	NCBI36
NG_008218.1:g.10562T>G
NG_008218.2:g.10562T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.856-124T>G	ENSP00000516154.1:n.856-124T>G
ENST00000268124.11:c.856-124T>G MANE Select	ENSP00000268124.5:n.856-124T>G
ENST00000530292.3:c.457-124T>G	ENSP00000432885.2:n.457-124T>G
ENST00000635986.2:c.856-124T>G	ENSP00000490653.2:n.856-124T>G
ENST00000636774.1:c.856-124T>G	ENSP00000489799.1:n.856-124T>G
ENST00000666746.1:c.513-124T>G
ENST00000672071.1:n.1054-124T>G
ENST00000268124.9:c.856-124T>G	ENSP00000268124.5:n.856-124T>G
ENST00000442287.6:c.856-124T>G	ENSP00000399851.2:n.856-124T>G
ENST00000631044.2:c.*239-124T>G	ENSP00000486730.1:n.*239-124T>G
NM_001126131.1:c.856-124T>G	NP_001119603.1:n.856-124T>G
NM_002693.2:c.856-124T>G	NP_002684.1:n.856-124T>G
NM_001126131.2:c.856-124T>G	NP_001119603.1:n.856-124T>G
NM_002693.3:c.856-124T>G MANE Select	NP_002684.1:n.856-124T>G