Canonical Allele Identifier: CA7725104

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 2040153
• ClinVar RCV Id: RCV002908077
• dbSNP Id: rs754310108
• ExAC: 15:89876467 C / T
• gnomAD v2: 15-89876467-C-T
• gnomAD v4: 15-89333236-C-T
• MyVariant Identifiers: chr15:g.89876467C>T (hg19) ; chr15:g.89333236C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333236C>T , CM000677.2:g.89333236C>T	GRCh38
NC_000015.9:g.89876467C>T , CM000677.1:g.89876467C>T	GRCh37
NC_000015.8:g.87677471C>T	NCBI36
NG_008218.1:g.6560G>A
NG_008218.2:g.6560G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.519G>A (POLG)	ENSP00000516154.1:p.Glu173=
ENST00000706918.1:c.574G>A (POLGARF)	ENSP00000516626.1:p.Gly192Arg
ENST00000268124.11:c.519G>A (POLG) MANE Select	ENSP00000268124.5:p.Glu173=
ENST00000530292.3:c.120G>A (POLG)	ENSP00000432885.2:p.Glu40=
ENST00000635986.2:c.519G>A (POLG)	ENSP00000490653.2:p.Glu173=
ENST00000636774.1:c.519G>A (POLG)	ENSP00000489799.1:p.Glu173=
ENST00000650303.2:c.574G>A (POLG)	ENSP00000497242.2:p.Gly192Arg
ENST00000666746.1:c.176G>A (POLG)
ENST00000672071.1:n.717G>A (POLG)
ENST00000268124.9:c.519G>A (POLG)	ENSP00000268124.5:p.Glu173=
ENST00000442287.6:c.519G>A (POLG)	ENSP00000399851.2:p.Glu173=
ENST00000631044.2:c.519G>A (POLG)	ENSP00000486730.1:p.Glu173=
NM_001126131.1:c.519G>A (POLG)	NP_001119603.1:p.Glu173=
NM_002693.2:c.519G>A (POLG)	NP_002684.1:p.Glu173=
NM_001126131.2:c.519G>A (POLG)	NP_001119603.1:p.Glu173=
NM_002693.3:c.519G>A (POLG) MANE Select	NP_002684.1:p.Glu173=