Canonical Allele Identifier: CA2630252032

Gene: POLG

Linked Data

• gnomAD v4: 15-89325344-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325344G>A , CM000677.2:g.89325344G>A	GRCh38
NC_000015.9:g.89868575G>A , CM000677.1:g.89868575G>A	GRCh37
NC_000015.8:g.87669579G>A	NCBI36
NG_008218.1:g.14452C>T
NG_008218.2:g.14452C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+106C>T	ENSP00000516154.1:n.1949+106C>T
ENST00000268124.11:c.1949+106C>T MANE Select	ENSP00000268124.5:n.1949+106C>T
ENST00000530292.3:c.1550+106C>T	ENSP00000432885.2:n.1550+106C>T
ENST00000635986.2:c.1949+106C>T	ENSP00000490653.2:n.1949+106C>T
ENST00000636774.1:c.*516+106C>T	ENSP00000489799.1:n.*516+106C>T
ENST00000637238.1:c.646+146C>T	ENSP00000490756.1:n.646+146C>T
ENST00000637264.1:c.1021+106C>T
ENST00000666746.1:c.1526+106C>T
ENST00000670281.1:c.269+106C>T	ENSP00000499709.1:n.269+106C>T
ENST00000672071.1:n.2147+106C>T
ENST00000672923.2:n.2052+106C>T
ENST00000268124.9:c.1949+106C>T	ENSP00000268124.5:n.1949+106C>T
ENST00000442287.6:c.1949+106C>T	ENSP00000399851.2:n.1949+106C>T
ENST00000526314.2:c.331+106C>T
ENST00000526398.1:c.138+106C>T
ENST00000526573.1:n.35+106C>T
ENST00000532584.5:n.151+106C>T
ENST00000631044.2:c.*1332+106C>T	ENSP00000486730.1:n.*1332+106C>T
NM_001126131.1:c.1949+106C>T	NP_001119603.1:n.1949+106C>T
NM_002693.2:c.1949+106C>T	NP_002684.1:n.1949+106C>T
NM_001126131.2:c.1949+106C>T	NP_001119603.1:n.1949+106C>T
NM_002693.3:c.1949+106C>T MANE Select	NP_002684.1:n.1949+106C>T