Canonical Allele Identifier: CA2573151265

Gene: POLG

Linked Data

• ClinVar Variation Id: 1538381
• ClinVar RCV Id: RCV002159816
• dbSNP Id: rs2055559130

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328936C>A , CM000677.2:g.89328936C>A	GRCh38
NC_000015.9:g.89872167C>A , CM000677.1:g.89872167C>A	GRCh37
NC_000015.8:g.87673171C>A	NCBI36
NG_008218.1:g.10860G>T
NG_008218.2:g.10860G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1023+7G>T	ENSP00000516154.1:n.1023+7G>T
ENST00000268124.11:c.1023+7G>T MANE Select	ENSP00000268124.5:n.1023+7G>T
ENST00000530292.3:c.624+7G>T	ENSP00000432885.2:n.624+7G>T
ENST00000635986.2:c.1023+7G>T	ENSP00000490653.2:n.1023+7G>T
ENST00000636774.1:c.1023+7G>T	ENSP00000489799.1:n.1023+7G>T
ENST00000637264.1:c.95+7G>T
ENST00000666746.1:c.680+7G>T
ENST00000672071.1:n.1221+7G>T
ENST00000672923.2:n.20+7G>T
ENST00000268124.9:c.1023+7G>T	ENSP00000268124.5:n.1023+7G>T
ENST00000442287.6:c.1023+7G>T	ENSP00000399851.2:n.1023+7G>T
ENST00000631044.2:c.*406+7G>T	ENSP00000486730.1:n.*406+7G>T
NM_001126131.1:c.1023+7G>T	NP_001119603.1:n.1023+7G>T
NM_002693.2:c.1023+7G>T	NP_002684.1:n.1023+7G>T
NM_001126131.2:c.1023+7G>T	NP_001119603.1:n.1023+7G>T
NM_002693.3:c.1023+7G>T MANE Select	NP_002684.1:n.1023+7G>T