Canonical Allele Identifier: CA2499223138

Gene: POLG

Linked Data

• ClinVar Variation Id: 1134902
• ClinVar RCV Id: RCV001469989
• dbSNP Id: rs2152066868

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89326904C>T , CM000677.2:g.89326904C>T	GRCh38
NC_000015.9:g.89870135C>T , CM000677.1:g.89870135C>T	GRCh37
NC_000015.8:g.87671139C>T	NCBI36
NG_008218.1:g.12892G>A
NG_008218.2:g.12892G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1585+8G>A	ENSP00000516154.1:n.1585+8G>A
ENST00000268124.11:c.1585+8G>A MANE Select	ENSP00000268124.5:n.1585+8G>A
ENST00000530292.3:c.1186+8G>A	ENSP00000432885.2:n.1186+8G>A
ENST00000635986.2:c.1585+8G>A	ENSP00000490653.2:n.1585+8G>A
ENST00000636774.1:c.*152+8G>A	ENSP00000489799.1:n.*152+8G>A
ENST00000637238.1:c.322+8G>A	ENSP00000490756.1:n.322+8G>A
ENST00000637264.1:c.657+8G>A
ENST00000666746.1:c.1162+8G>A
ENST00000672071.1:n.1783+8G>A
ENST00000672923.2:n.1688+8G>A
ENST00000268124.9:c.1585+8G>A	ENSP00000268124.5:n.1585+8G>A
ENST00000442287.6:c.1585+8G>A	ENSP00000399851.2:n.1585+8G>A
ENST00000631044.2:c.*968+8G>A	ENSP00000486730.1:n.*968+8G>A
NM_001126131.1:c.1585+8G>A	NP_001119603.1:n.1585+8G>A
NM_002693.2:c.1585+8G>A	NP_002684.1:n.1585+8G>A
NM_001126131.2:c.1585+8G>A	NP_001119603.1:n.1585+8G>A
NM_002693.3:c.1585+8G>A MANE Select	NP_002684.1:n.1585+8G>A