Canonical Allele Identifier: CA10603352

Gene: POLG

Linked Data

• ClinVar Variation Id: 280375
• ClinVar RCV Id: RCV000292336 ; RCV000985201 ; RCV002500971
• dbSNP Id: rs886041592
• gnomAD v3: 15-89329041-G-A
• gnomAD v4: 15-89329041-G-A
• MyVariant Identifiers: chr15:g.89872272G>A (hg19) ; chr15:g.89329041G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89329041G>A , CM000677.2:g.89329041G>A	GRCh38
NC_000015.9:g.89872272G>A , CM000677.1:g.89872272G>A	GRCh37
NC_000015.8:g.87673276G>A	NCBI36
NG_008218.1:g.10755C>T
NG_008218.2:g.10755C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.925C>T	ENSP00000516154.1:p.Arg309Cys
ENST00000268124.11:c.925C>T MANE Select	ENSP00000268124.5:p.Arg309Cys
ENST00000530292.3:c.526C>T	ENSP00000432885.2:p.Arg176Cys
ENST00000635986.2:c.925C>T	ENSP00000490653.2:p.Arg309Cys
ENST00000636774.1:c.925C>T	ENSP00000489799.1:p.Arg309Cys
ENST00000666746.1:c.582C>T
ENST00000672071.1:n.1123C>T
ENST00000268124.9:c.925C>T	ENSP00000268124.5:p.Arg309Cys
ENST00000442287.6:c.925C>T	ENSP00000399851.2:p.Arg309Cys
ENST00000631044.2:c.*308C>T	ENSP00000486730.1:n.*308C>T
NM_001126131.1:c.925C>T	NP_001119603.1:p.Arg309Cys
NM_002693.2:c.925C>T	NP_002684.1:p.Arg309Cys
NM_001126131.2:c.925C>T	NP_001119603.1:p.Arg309Cys
NM_002693.3:c.925C>T MANE Select	NP_002684.1:p.Arg309Cys