Canonical Allele Identifier: CA2630252007

Gene: POLG

Linked Data

• gnomAD v4: 15-89325317-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325317A>C , CM000677.2:g.89325317A>C	GRCh38
NC_000015.9:g.89868548A>C , CM000677.1:g.89868548A>C	GRCh37
NC_000015.8:g.87669552A>C	NCBI36
NG_008218.1:g.14479T>G
NG_008218.2:g.14479T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+133T>G	ENSP00000516154.1:n.1949+133T>G
ENST00000268124.11:c.1949+133T>G MANE Select	ENSP00000268124.5:n.1949+133T>G
ENST00000530292.3:c.1550+133T>G	ENSP00000432885.2:n.1550+133T>G
ENST00000635986.2:c.1949+133T>G	ENSP00000490653.2:n.1949+133T>G
ENST00000636774.1:c.*516+133T>G	ENSP00000489799.1:n.*516+133T>G
ENST00000637238.1:c.646+173T>G	ENSP00000490756.1:n.646+173T>G
ENST00000637264.1:c.1021+133T>G
ENST00000666746.1:c.1526+133T>G
ENST00000670281.1:c.269+133T>G	ENSP00000499709.1:n.269+133T>G
ENST00000672071.1:n.2147+133T>G
ENST00000672923.2:n.2052+133T>G
ENST00000268124.9:c.1949+133T>G	ENSP00000268124.5:n.1949+133T>G
ENST00000442287.6:c.1949+133T>G	ENSP00000399851.2:n.1949+133T>G
ENST00000526314.2:c.331+133T>G
ENST00000526398.1:c.138+133T>G
ENST00000526573.1:n.35+133T>G
ENST00000532584.5:n.151+133T>G
ENST00000631044.2:c.*1332+133T>G	ENSP00000486730.1:n.*1332+133T>G
NM_001126131.1:c.1949+133T>G	NP_001119603.1:n.1949+133T>G
NM_002693.2:c.1949+133T>G	NP_002684.1:n.1949+133T>G
NM_001126131.2:c.1949+133T>G	NP_001119603.1:n.1949+133T>G
NM_002693.3:c.1949+133T>G MANE Select	NP_002684.1:n.1949+133T>G