Canonical Allele Identifier: CA393774547

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 597481
• ClinVar RCV Id: RCV000733617
• dbSNP Id: rs28567406
• gnomAD v4: 15-89333627-T-A
• MyVariant Identifiers: chr15:g.89876858T>A (hg19) ; chr15:g.89333627T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333627T>A , CM000677.2:g.89333627T>A	GRCh38
NC_000015.9:g.89876858T>A , CM000677.1:g.89876858T>A	GRCh37
NC_000015.8:g.87677862T>A	NCBI36
NG_008218.1:g.6169A>T
NG_008218.2:g.6169A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.128A>T (POLG)	ENSP00000516154.1:p.Gln43Leu
ENST00000706918.1:c.183A>T (POLGARF)	ENSP00000516626.1:p.Ala61=
ENST00000268124.11:c.128A>T (POLG) MANE Select	ENSP00000268124.5:p.Gln43Leu
ENST00000635986.2:c.128A>T (POLG)	ENSP00000490653.2:p.Gln43Leu
ENST00000636774.1:c.128A>T (POLG)	ENSP00000489799.1:p.Gln43Leu
ENST00000650303.2:c.183A>T (POLG)	ENSP00000497242.2:p.Ala61=
ENST00000672071.1:n.326A>T (POLG)
ENST00000268124.9:c.128A>T (POLG)	ENSP00000268124.5:p.Gln43Leu
ENST00000442287.6:c.128A>T (POLG)	ENSP00000399851.2:p.Gln43Leu
ENST00000631044.2:c.128A>T (POLG)	ENSP00000486730.1:p.Gln43Leu
NM_001126131.1:c.128A>T (POLG)	NP_001119603.1:p.Gln43Leu
NM_002693.2:c.128A>T (POLG)	NP_002684.1:p.Gln43Leu
NM_001126131.2:c.128A>T (POLG)	NP_001119603.1:p.Gln43Leu
NM_002693.3:c.128A>T (POLG) MANE Select	NP_002684.1:p.Gln43Leu