Canonical Allele Identifier: CA393771865

Gene: POLG POLGARF

Linked Data

• gnomAD v4: 15-89333333-A-T
• MyVariant Identifiers: chr15:g.89876564A>T (hg19) ; chr15:g.89333333A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333333A>T , CM000677.2:g.89333333A>T	GRCh38
NC_000015.9:g.89876564A>T , CM000677.1:g.89876564A>T	GRCh37
NC_000015.8:g.87677568A>T	NCBI36
NG_008218.1:g.6463T>A
NG_008218.2:g.6463T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.422T>A (POLG)	ENSP00000516154.1:p.Leu141His
ENST00000706918.1:c.477T>A (POLGARF)	ENSP00000516626.1:p.Pro159=
ENST00000268124.11:c.422T>A (POLG) MANE Select	ENSP00000268124.5:p.Leu141His
ENST00000530292.3:c.23T>A (POLG)	ENSP00000432885.2:p.Leu8His
ENST00000635986.2:c.422T>A (POLG)	ENSP00000490653.2:p.Leu141His
ENST00000636774.1:c.422T>A (POLG)	ENSP00000489799.1:p.Leu141His
ENST00000650303.2:c.477T>A (POLG)	ENSP00000497242.2:p.Pro159=
ENST00000666746.1:c.79T>A (POLG)
ENST00000672071.1:n.620T>A (POLG)
ENST00000268124.9:c.422T>A (POLG)	ENSP00000268124.5:p.Leu141His
ENST00000442287.6:c.422T>A (POLG)	ENSP00000399851.2:p.Leu141His
ENST00000631044.2:c.422T>A (POLG)	ENSP00000486730.1:p.Leu141His
NM_001126131.1:c.422T>A (POLG)	NP_001119603.1:p.Leu141His
NM_002693.2:c.422T>A (POLG)	NP_002684.1:p.Leu141His
NM_001126131.2:c.422T>A (POLG)	NP_001119603.1:p.Leu141His
NM_002693.3:c.422T>A (POLG) MANE Select	NP_002684.1:p.Leu141His