Canonical Allele Identifier: CA393766807

Gene: POLG

Linked Data

• gnomAD v4: 15-89330139-A-T
• MyVariant Identifiers: chr15:g.89873370A>T (hg19) ; chr15:g.89330139A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330139A>T , CM000677.2:g.89330139A>T	GRCh38
NC_000015.9:g.89873370A>T , CM000677.1:g.89873370A>T	GRCh37
NC_000015.8:g.87674374A>T	NCBI36
NG_008218.1:g.9657T>A
NG_008218.2:g.9657T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.797T>A	ENSP00000516154.1:p.Val266Glu
ENST00000268124.11:c.797T>A MANE Select	ENSP00000268124.5:p.Val266Glu
ENST00000530292.3:c.398T>A	ENSP00000432885.2:p.Val133Glu
ENST00000635986.2:c.797T>A	ENSP00000490653.2:p.Val266Glu
ENST00000636774.1:c.797T>A	ENSP00000489799.1:p.Val266Glu
ENST00000666746.1:c.454T>A
ENST00000672071.1:n.995T>A
ENST00000268124.9:c.797T>A	ENSP00000268124.5:p.Val266Glu
ENST00000442287.6:c.797T>A	ENSP00000399851.2:p.Val266Glu
ENST00000631044.2:c.*180T>A	ENSP00000486730.1:n.*180T>A
NM_001126131.1:c.797T>A	NP_001119603.1:p.Val266Glu
NM_002693.2:c.797T>A	NP_002684.1:p.Val266Glu
NM_001126131.2:c.797T>A	NP_001119603.1:p.Val266Glu
NM_002693.3:c.797T>A MANE Select	NP_002684.1:p.Val266Glu