Canonical Allele Identifier: CA2630252113

Gene: POLG

Linked Data

• ClinVar Variation Id: 2760836
• ClinVar RCV Id: RCV003515767
• gnomAD v4: 15-89325430-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325430C>A , CM000677.2:g.89325430C>A	GRCh38
NC_000015.9:g.89868661C>A , CM000677.1:g.89868661C>A	GRCh37
NC_000015.8:g.87669665C>A	NCBI36
NG_008218.1:g.14366G>T
NG_008218.2:g.14366G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+20G>T	ENSP00000516154.1:n.1949+20G>T
ENST00000268124.11:c.1949+20G>T MANE Select	ENSP00000268124.5:n.1949+20G>T
ENST00000530292.3:c.1550+20G>T	ENSP00000432885.2:n.1550+20G>T
ENST00000635986.2:c.1949+20G>T	ENSP00000490653.2:n.1949+20G>T
ENST00000636774.1:c.*516+20G>T	ENSP00000489799.1:n.*516+20G>T
ENST00000637238.1:c.646+60G>T	ENSP00000490756.1:n.646+60G>T
ENST00000637264.1:c.1021+20G>T
ENST00000666746.1:c.1526+20G>T
ENST00000670281.1:c.269+20G>T	ENSP00000499709.1:n.269+20G>T
ENST00000672071.1:n.2147+20G>T
ENST00000672923.2:n.2052+20G>T
ENST00000268124.9:c.1949+20G>T	ENSP00000268124.5:n.1949+20G>T
ENST00000442287.6:c.1949+20G>T	ENSP00000399851.2:n.1949+20G>T
ENST00000526314.2:c.331+20G>T
ENST00000526398.1:c.138+20G>T
ENST00000526573.1:n.35+20G>T
ENST00000532584.5:n.151+20G>T
ENST00000631044.2:c.*1332+20G>T	ENSP00000486730.1:n.*1332+20G>T
NM_001126131.1:c.1949+20G>T	NP_001119603.1:n.1949+20G>T
NM_002693.2:c.1949+20G>T	NP_002684.1:n.1949+20G>T
NM_001126131.2:c.1949+20G>T	NP_001119603.1:n.1949+20G>T
NM_002693.3:c.1949+20G>T MANE Select	NP_002684.1:n.1949+20G>T