Canonical Allele Identifier: CA2573151255

Gene: POLG

Linked Data

• ClinVar Variation Id: 1552734
• ClinVar RCV Id: RCV002185080
• dbSNP Id: rs2152067044

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327150A>G , CM000677.2:g.89327150A>G	GRCh38
NC_000015.9:g.89870381A>G , CM000677.1:g.89870381A>G	GRCh37
NC_000015.8:g.87671385A>G	NCBI36
NG_008218.1:g.12646T>C
NG_008218.2:g.12646T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1433+17T>C	ENSP00000516154.1:n.1433+17T>C
ENST00000268124.11:c.1433+17T>C MANE Select	ENSP00000268124.5:n.1433+17T>C
ENST00000530292.3:c.1034+17T>C	ENSP00000432885.2:n.1034+17T>C
ENST00000635986.2:c.1433+17T>C	ENSP00000490653.2:n.1433+17T>C
ENST00000636774.1:c.1433+17T>C	ENSP00000489799.1:n.1433+17T>C
ENST00000637238.1:c.170+17T>C	ENSP00000490756.1:n.170+17T>C
ENST00000637264.1:c.505+17T>C
ENST00000666746.1:c.1010+17T>C
ENST00000672071.1:n.1631+17T>C
ENST00000672923.2:n.1536+17T>C
ENST00000268124.9:c.1433+17T>C	ENSP00000268124.5:n.1433+17T>C
ENST00000442287.6:c.1433+17T>C	ENSP00000399851.2:n.1433+17T>C
ENST00000532363.2:n.308T>C
ENST00000631044.2:c.*816+17T>C	ENSP00000486730.1:n.*816+17T>C
NM_001126131.1:c.1433+17T>C	NP_001119603.1:n.1433+17T>C
NM_002693.2:c.1433+17T>C	NP_002684.1:n.1433+17T>C
NM_001126131.2:c.1433+17T>C	NP_001119603.1:n.1433+17T>C
NM_002693.3:c.1433+17T>C MANE Select	NP_002684.1:n.1433+17T>C