Canonical Allele Identifier: CA2630256897

Gene: POLG

Linked Data

• ClinVar Variation Id: 2995647
• ClinVar RCV Id: RCV003853734
• gnomAD v4: 15-89328929-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328929C>G , CM000677.2:g.89328929C>G	GRCh38
NC_000015.9:g.89872160C>G , CM000677.1:g.89872160C>G	GRCh37
NC_000015.8:g.87673164C>G	NCBI36
NG_008218.1:g.10867G>C
NG_008218.2:g.10867G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1023+14G>C	ENSP00000516154.1:n.1023+14G>C
ENST00000268124.11:c.1023+14G>C MANE Select	ENSP00000268124.5:n.1023+14G>C
ENST00000530292.3:c.624+14G>C	ENSP00000432885.2:n.624+14G>C
ENST00000635986.2:c.1023+14G>C	ENSP00000490653.2:n.1023+14G>C
ENST00000636774.1:c.1023+14G>C	ENSP00000489799.1:n.1023+14G>C
ENST00000637264.1:c.95+14G>C
ENST00000666746.1:c.680+14G>C
ENST00000672071.1:n.1221+14G>C
ENST00000672923.2:n.20+14G>C
ENST00000268124.9:c.1023+14G>C	ENSP00000268124.5:n.1023+14G>C
ENST00000442287.6:c.1023+14G>C	ENSP00000399851.2:n.1023+14G>C
ENST00000631044.2:c.*406+14G>C	ENSP00000486730.1:n.*406+14G>C
NM_001126131.1:c.1023+14G>C	NP_001119603.1:n.1023+14G>C
NM_002693.2:c.1023+14G>C	NP_002684.1:n.1023+14G>C
NM_001126131.2:c.1023+14G>C	NP_001119603.1:n.1023+14G>C
NM_002693.3:c.1023+14G>C MANE Select	NP_002684.1:n.1023+14G>C