Canonical Allele Identifier: CA393771119

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 2645693
• ClinVar RCV Id: RCV003403119
• dbSNP Id: rs2141814662
• gnomAD v4: 15-89333237-T-C
• MyVariant Identifiers: chr15:g.89876468T>C (hg19) ; chr15:g.89333237T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333237T>C , CM000677.2:g.89333237T>C	GRCh38
NC_000015.9:g.89876468T>C , CM000677.1:g.89876468T>C	GRCh37
NC_000015.8:g.87677472T>C	NCBI36
NG_008218.1:g.6559A>G
NG_008218.2:g.6559A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.518A>G (POLG)	ENSP00000516154.1:p.Glu173Gly
ENST00000706918.1:c.573A>G (POLGARF)	ENSP00000516626.1:p.Gly191=
ENST00000268124.11:c.518A>G (POLG) MANE Select	ENSP00000268124.5:p.Glu173Gly
ENST00000530292.3:c.119A>G (POLG)	ENSP00000432885.2:p.Glu40Gly
ENST00000635986.2:c.518A>G (POLG)	ENSP00000490653.2:p.Glu173Gly
ENST00000636774.1:c.518A>G (POLG)	ENSP00000489799.1:p.Glu173Gly
ENST00000650303.2:c.573A>G (POLG)	ENSP00000497242.2:p.Gly191=
ENST00000666746.1:c.175A>G (POLG)
ENST00000672071.1:n.716A>G (POLG)
ENST00000268124.9:c.518A>G (POLG)	ENSP00000268124.5:p.Glu173Gly
ENST00000442287.6:c.518A>G (POLG)	ENSP00000399851.2:p.Glu173Gly
ENST00000631044.2:c.518A>G (POLG)	ENSP00000486730.1:p.Glu173Gly
NM_001126131.1:c.518A>G (POLG)	NP_001119603.1:p.Glu173Gly
NM_002693.2:c.518A>G (POLG)	NP_002684.1:p.Glu173Gly
NM_001126131.2:c.518A>G (POLG)	NP_001119603.1:p.Glu173Gly
NM_002693.3:c.518A>G (POLG) MANE Select	NP_002684.1:p.Glu173Gly