Canonical Allele Identifier: CA10605655

Gene: POLG

Linked Data

• ClinVar Variation Id: 287040
• ClinVar RCV Id: RCV000296901 ; RCV002519275
• dbSNP Id: rs886043556
• gnomAD v4: 15-89328983-T-C
• MyVariant Identifiers: chr15:g.89872214T>C (hg19) ; chr15:g.89328983T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328983T>C , CM000677.2:g.89328983T>C	GRCh38
NC_000015.9:g.89872214T>C , CM000677.1:g.89872214T>C	GRCh37
NC_000015.8:g.87673218T>C	NCBI36
NG_008218.1:g.10813A>G
NG_008218.2:g.10813A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.983A>G	ENSP00000516154.1:p.Gln328Arg
ENST00000268124.11:c.983A>G MANE Select	ENSP00000268124.5:p.Gln328Arg
ENST00000530292.3:c.584A>G	ENSP00000432885.2:p.Gln195Arg
ENST00000635986.2:c.983A>G	ENSP00000490653.2:p.Gln328Arg
ENST00000636774.1:c.983A>G	ENSP00000489799.1:p.Gln328Arg
ENST00000637264.1:c.55A>G
ENST00000666746.1:c.640A>G
ENST00000672071.1:n.1181A>G
ENST00000268124.9:c.983A>G	ENSP00000268124.5:p.Gln328Arg
ENST00000442287.6:c.983A>G	ENSP00000399851.2:p.Gln328Arg
ENST00000631044.2:c.*366A>G	ENSP00000486730.1:n.*366A>G
NM_001126131.1:c.983A>G	NP_001119603.1:p.Gln328Arg
NM_002693.2:c.983A>G	NP_002684.1:p.Gln328Arg
NM_001126131.2:c.983A>G	NP_001119603.1:p.Gln328Arg
NM_002693.3:c.983A>G MANE Select	NP_002684.1:p.Gln328Arg