Canonical Allele Identifier: CA2630253904

Gene: POLG

Linked Data

• gnomAD v4: 15-89327140-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327140G>T , CM000677.2:g.89327140G>T	GRCh38
NC_000015.9:g.89870371G>T , CM000677.1:g.89870371G>T	GRCh37
NC_000015.8:g.87671375G>T	NCBI36
NG_008218.1:g.12656C>A
NG_008218.2:g.12656C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1433+27C>A	ENSP00000516154.1:n.1433+27C>A
ENST00000268124.11:c.1433+27C>A MANE Select	ENSP00000268124.5:n.1433+27C>A
ENST00000530292.3:c.1034+27C>A	ENSP00000432885.2:n.1034+27C>A
ENST00000635986.2:c.1433+27C>A	ENSP00000490653.2:n.1433+27C>A
ENST00000636774.1:c.1433+27C>A	ENSP00000489799.1:n.1433+27C>A
ENST00000637238.1:c.170+27C>A	ENSP00000490756.1:n.170+27C>A
ENST00000637264.1:c.505+27C>A
ENST00000666746.1:c.1010+27C>A
ENST00000672071.1:n.1631+27C>A
ENST00000672923.2:n.1536+27C>A
ENST00000268124.9:c.1433+27C>A	ENSP00000268124.5:n.1433+27C>A
ENST00000442287.6:c.1433+27C>A	ENSP00000399851.2:n.1433+27C>A
ENST00000532363.2:n.318C>A
ENST00000631044.2:c.*816+27C>A	ENSP00000486730.1:n.*816+27C>A
NM_001126131.1:c.1433+27C>A	NP_001119603.1:n.1433+27C>A
NM_002693.2:c.1433+27C>A	NP_002684.1:n.1433+27C>A
NM_001126131.2:c.1433+27C>A	NP_001119603.1:n.1433+27C>A
NM_002693.3:c.1433+27C>A MANE Select	NP_002684.1:n.1433+27C>A