Canonical Allele Identifier: CA619857473

Gene: POLG

Linked Data

• ClinVar Variation Id: 1604912
• ClinVar RCV Id: RCV002149662
• dbSNP Id: rs1348282253
• gnomAD v2: 15-89864341-C-T
• gnomAD v3: 15-89321110-C-T
• gnomAD v4: 15-89321110-C-T
• MyVariant Identifiers: chr15:g.89864341C>T (hg19) ; chr15:g.89321110C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321110C>T , CM000677.2:g.89321110C>T	GRCh38
NC_000015.9:g.89864341C>T , CM000677.1:g.89864341C>T	GRCh37
NC_000015.8:g.87665345C>T	NCBI36
NG_008218.1:g.18686G>A
NG_008218.2:g.18686G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2734+15G>A	ENSP00000516154.1:n.2734+15G>A
ENST00000268124.11:c.2734+15G>A MANE Select	ENSP00000268124.5:n.2734+15G>A
ENST00000530292.3:c.2335+15G>A	ENSP00000432885.2:n.2335+15G>A
ENST00000635986.2:c.2734+15G>A	ENSP00000490653.2:n.2734+15G>A
ENST00000636774.1:c.*1301+15G>A	ENSP00000489799.1:n.*1301+15G>A
ENST00000637238.1:c.1446G>A	ENSP00000490756.1:n.1446G>A
ENST00000637264.1:c.1806+15G>A
ENST00000666746.1:c.2311+15G>A
ENST00000670281.1:c.800+852G>A	ENSP00000499709.1:n.800+852G>A
ENST00000672071.1:n.2932+15G>A
ENST00000672923.2:n.2676+15G>A
ENST00000268124.9:c.2734+15G>A	ENSP00000268124.5:n.2734+15G>A
ENST00000442287.6:c.2734+15G>A	ENSP00000399851.2:n.2734+15G>A
ENST00000528881.2:c.331+15G>A
ENST00000530715.5:c.186-241G>A	ENSP00000431395.1:n.186-241G>A
ENST00000631044.2:c.*2158+15G>A	ENSP00000486730.1:n.*2158+15G>A
NM_001126131.1:c.2734+15G>A	NP_001119603.1:n.2734+15G>A
NM_002693.2:c.2734+15G>A	NP_002684.1:n.2734+15G>A
NM_001126131.2:c.2734+15G>A	NP_001119603.1:n.2734+15G>A
NM_002693.3:c.2734+15G>A MANE Select	NP_002684.1:n.2734+15G>A