Canonical Allele Identifier: CA274549295

Gene: POLG

Linked Data

• dbSNP Id: rs41550016
• gnomAD v2: 15-89866583-C-T
• gnomAD v3: 15-89323352-C-T
• gnomAD v4: 15-89323352-C-T
• MyVariant Identifiers: chr15:g.89866583C>T (hg19) ; chr15:g.89323352C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323352C>T , CM000677.2:g.89323352C>T	GRCh38
NC_000015.9:g.89866583C>T , CM000677.1:g.89866583C>T	GRCh37
NC_000015.8:g.87667587C>T	NCBI36
NG_008218.1:g.16444G>A
NG_008218.2:g.16444G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2265+52G>A	ENSP00000516154.1:n.2265+52G>A
ENST00000268124.11:c.2265+52G>A MANE Select	ENSP00000268124.5:n.2265+52G>A
ENST00000530292.3:c.1866+52G>A	ENSP00000432885.2:n.1866+52G>A
ENST00000635986.2:c.2265+52G>A	ENSP00000490653.2:n.2265+52G>A
ENST00000636774.1:c.*832+52G>A	ENSP00000489799.1:n.*832+52G>A
ENST00000637238.1:c.962+52G>A	ENSP00000490756.1:n.962+52G>A
ENST00000637264.1:c.1337+52G>A
ENST00000666746.1:c.1842+52G>A
ENST00000670281.1:c.585+52G>A	ENSP00000499709.1:n.585+52G>A
ENST00000672071.1:n.2463+52G>A
ENST00000672923.2:n.2368+52G>A
ENST00000268124.9:c.2265+52G>A	ENSP00000268124.5:n.2265+52G>A
ENST00000442287.6:c.2265+52G>A	ENSP00000399851.2:n.2265+52G>A
ENST00000526314.2:c.540-450G>A
ENST00000526398.1:c.414+52G>A
ENST00000528881.2:c.34+52G>A
ENST00000530715.5:c.24+52G>A	ENSP00000431395.1:n.24+52G>A
ENST00000532584.5:n.467+52G>A
ENST00000631044.2:c.*1689+52G>A	ENSP00000486730.1:n.*1689+52G>A
NM_001126131.1:c.2265+52G>A	NP_001119603.1:n.2265+52G>A
NM_002693.2:c.2265+52G>A	NP_002684.1:n.2265+52G>A
NM_001126131.2:c.2265+52G>A	NP_001119603.1:n.2265+52G>A
NM_002693.3:c.2265+52G>A MANE Select	NP_002684.1:n.2265+52G>A