Canonical Allele Identifier: CA10602303

Gene: POLG

Linked Data

• ClinVar Variation Id: 619345
• ClinVar RCV Id: RCV000758340
• dbSNP Id: rs1567192219

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328855T>C , CM000677.2:g.89328855T>C	GRCh38
NC_000015.9:g.89872086T>C , CM000677.1:g.89872086T>C	GRCh37
NC_000015.8:g.87673090T>C	NCBI36
NG_008218.1:g.10941A>G
NG_008218.2:g.10941A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1024-24A>G	ENSP00000516154.1:n.1024-24A>G
ENST00000268124.11:c.1024-24A>G MANE Select	ENSP00000268124.5:n.1024-24A>G
ENST00000530292.3:c.625-24A>G	ENSP00000432885.2:n.625-24A>G
ENST00000635986.2:c.1024-24A>G	ENSP00000490653.2:n.1024-24A>G
ENST00000636774.1:c.1024-24A>G	ENSP00000489799.1:n.1024-24A>G
ENST00000637264.1:c.96-24A>G
ENST00000666746.1:c.681-24A>G
ENST00000672071.1:n.1222-24A>G
ENST00000672923.2:n.21-24A>G
ENST00000268124.9:c.1024-24A>G	ENSP00000268124.5:n.1024-24A>G
ENST00000442287.6:c.1024-24A>G	ENSP00000399851.2:n.1024-24A>G
ENST00000631044.2:c.*407-24A>G	ENSP00000486730.1:n.*407-24A>G
NM_001126131.1:c.1024-24A>G	NP_001119603.1:n.1024-24A>G
NM_002693.2:c.1024-24A>G	NP_002684.1:n.1024-24A>G
NM_001126131.2:c.1024-24A>G	NP_001119603.1:n.1024-24A>G
NM_002693.3:c.1024-24A>G MANE Select	NP_002684.1:n.1024-24A>G