Canonical Allele Identifier: CA619857361

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89324237G>T , CM000677.2:g.89324237G>T	GRCh38
NC_000015.9:g.89867468G>T , CM000677.1:g.89867468G>T	GRCh37
NC_000015.8:g.87668472G>T	NCBI36
NG_008218.1:g.15559C>A
NG_008218.2:g.15559C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.1950-10C>A MANE Select	NP_002684.1:n.1950-10C>A
ENST00000268124.11:c.1950-10C>A MANE Select	ENSP00000268124.5:n.1950-10C>A
NM_001126131.1:c.1950-10C>A	NP_001119603.1:n.1950-10C>A
NM_001126131.2:c.1950-10C>A	NP_001119603.1:n.1950-10C>A
NM_002693.2:c.1950-10C>A	NP_002684.1:n.1950-10C>A
ENST00000268124.9:c.1950-10C>A	ENSP00000268124.5:n.1950-10C>A
ENST00000442287.6:c.1950-10C>A	ENSP00000399851.2:n.1950-10C>A
ENST00000526314.2:c.332-10C>A
ENST00000526398.1:c.139-50C>A
ENST00000526573.1:n.36-10C>A
ENST00000530292.3:c.1551-10C>A	ENSP00000432885.2:n.1551-10C>A
ENST00000532584.5:n.152-10C>A
ENST00000533857.1:n.55C>A
ENST00000631044.2:c.*1333-10C>A	ENSP00000486730.1:n.*1333-10C>A
ENST00000635986.2:c.1950-10C>A	ENSP00000490653.2:n.1950-10C>A
ENST00000636774.1:c.*517-10C>A	ENSP00000489799.1:n.*517-10C>A
ENST00000636937.2:c.1950-10C>A	ENSP00000516154.1:n.1950-10C>A
ENST00000637238.1:c.647-10C>A	ENSP00000490756.1:n.647-10C>A
ENST00000637264.1:c.1022-10C>A
ENST00000666746.1:c.1527-10C>A
ENST00000670281.1:c.270-10C>A	ENSP00000499709.1:n.270-10C>A
ENST00000672071.1:n.2148-10C>A
ENST00000672923.2:n.2053-10C>A