Canonical Allele Identifier: CA393766986

Gene: POLG

Linked Data

• dbSNP Id: rs2055575768
• gnomAD v3: 15-89330181-C-T
• gnomAD v4: 15-89330181-C-T
• MyVariant Identifiers: chr15:g.89873412C>T (hg19) ; chr15:g.89330181C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330181C>T , CM000677.2:g.89330181C>T	GRCh38
NC_000015.9:g.89873412C>T , CM000677.1:g.89873412C>T	GRCh37
NC_000015.8:g.87674416C>T	NCBI36
NG_008218.1:g.9615G>A
NG_008218.2:g.9615G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.755G>A	ENSP00000516154.1:p.Gly252Asp
ENST00000268124.11:c.755G>A MANE Select	ENSP00000268124.5:p.Gly252Asp
ENST00000530292.3:c.356G>A	ENSP00000432885.2:p.Gly119Asp
ENST00000635986.2:c.755G>A	ENSP00000490653.2:p.Gly252Asp
ENST00000636774.1:c.755G>A	ENSP00000489799.1:p.Gly252Asp
ENST00000666746.1:c.412G>A
ENST00000672071.1:n.953G>A
ENST00000268124.9:c.755G>A	ENSP00000268124.5:p.Gly252Asp
ENST00000442287.6:c.755G>A	ENSP00000399851.2:p.Gly252Asp
ENST00000631044.2:c.*138G>A	ENSP00000486730.1:n.*138G>A
NM_001126131.1:c.755G>A	NP_001119603.1:p.Gly252Asp
NM_002693.2:c.755G>A	NP_002684.1:p.Gly252Asp
NM_001126131.2:c.755G>A	NP_001119603.1:p.Gly252Asp
NM_002693.3:c.755G>A MANE Select	NP_002684.1:p.Gly252Asp