Canonical Allele Identifier: CA2630255693

Gene: POLG

Linked Data

• gnomAD v4: 15-89323529-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323529C>G , CM000677.2:g.89323529C>G	GRCh38
NC_000015.9:g.89866760C>G , CM000677.1:g.89866760C>G	GRCh37
NC_000015.8:g.87667764C>G	NCBI36
NG_008218.1:g.16267G>C
NG_008218.2:g.16267G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2158-18G>C	ENSP00000516154.1:n.2158-18G>C
ENST00000268124.11:c.2158-18G>C MANE Select	ENSP00000268124.5:n.2158-18G>C
ENST00000530292.3:c.1759-18G>C	ENSP00000432885.2:n.1759-18G>C
ENST00000635986.2:c.2158-18G>C	ENSP00000490653.2:n.2158-18G>C
ENST00000636774.1:c.*725-18G>C	ENSP00000489799.1:n.*725-18G>C
ENST00000637238.1:c.855-18G>C	ENSP00000490756.1:n.855-18G>C
ENST00000637264.1:c.1230-18G>C
ENST00000666746.1:c.1735-18G>C
ENST00000670281.1:c.478-18G>C	ENSP00000499709.1:n.478-18G>C
ENST00000672071.1:n.2356-18G>C
ENST00000672923.2:n.2261-18G>C
ENST00000268124.9:c.2158-18G>C	ENSP00000268124.5:n.2158-18G>C
ENST00000442287.6:c.2158-18G>C	ENSP00000399851.2:n.2158-18G>C
ENST00000526314.2:c.539+286G>C
ENST00000526398.1:c.307-18G>C
ENST00000526573.1:n.529G>C
ENST00000532584.5:n.360-18G>C
ENST00000533857.1:n.558G>C
ENST00000631044.2:c.*1564G>C	ENSP00000486730.1:n.*1564G>C
NM_001126131.1:c.2158-18G>C	NP_001119603.1:n.2158-18G>C
NM_002693.2:c.2158-18G>C	NP_002684.1:n.2158-18G>C
NM_001126131.2:c.2158-18G>C	NP_001119603.1:n.2158-18G>C
NM_002693.3:c.2158-18G>C MANE Select	NP_002684.1:n.2158-18G>C