Canonical Allele Identifier: CA492289965

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 2859564
• ClinVar RCV Id: RCV003626183
• gnomAD v4: 15-89333296-C-T
• MyVariant Identifiers: chr15:g.89876527C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333296C>T , CM000677.2:g.89333296C>T	GRCh38
NC_000015.9:g.89876527C>T , CM000677.1:g.89876527C>T	GRCh37
NC_000015.8:g.87677531C>T	NCBI36
NG_008218.1:g.6500G>A
NG_008218.2:g.6500G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.459G>A (POLG)	ENSP00000516154.1:p.Ala153=
ENST00000706918.1:c.514G>A (POLGARF)	ENSP00000516626.1:p.Gly172Ser
ENST00000268124.11:c.459G>A (POLG) MANE Select	ENSP00000268124.5:p.Ala153=
ENST00000530292.3:c.60G>A (POLG)	ENSP00000432885.2:p.Ala20=
ENST00000635986.2:c.459G>A (POLG)	ENSP00000490653.2:p.Ala153=
ENST00000636774.1:c.459G>A (POLG)	ENSP00000489799.1:p.Ala153=
ENST00000650303.2:c.514G>A (POLG)	ENSP00000497242.2:p.Gly172Ser
ENST00000666746.1:c.116G>A (POLG)
ENST00000672071.1:n.657G>A (POLG)
ENST00000268124.9:c.459G>A (POLG)	ENSP00000268124.5:p.Ala153=
ENST00000442287.6:c.459G>A (POLG)	ENSP00000399851.2:p.Ala153=
ENST00000631044.2:c.459G>A (POLG)	ENSP00000486730.1:p.Ala153=
NM_001126131.1:c.459G>A (POLG)	NP_001119603.1:p.Ala153=
NM_002693.2:c.459G>A (POLG)	NP_002684.1:p.Ala153=
NM_001126131.2:c.459G>A (POLG)	NP_001119603.1:p.Ala153=
NM_002693.3:c.459G>A (POLG) MANE Select	NP_002684.1:p.Ala153=