Canonical Allele Identifier: CA393767013

Gene: POLG

Linked Data

• dbSNP Id: rs2141806603
• MyVariant Identifiers: chr15:g.89873425C>T (hg19) ; chr15:g.89330194C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330194C>T , CM000677.2:g.89330194C>T	GRCh38
NC_000015.9:g.89873425C>T , CM000677.1:g.89873425C>T	GRCh37
NC_000015.8:g.87674429C>T	NCBI36
NG_008218.1:g.9602G>A
NG_008218.2:g.9602G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.742G>A	ENSP00000516154.1:p.Glu248Lys
ENST00000268124.11:c.742G>A MANE Select	ENSP00000268124.5:p.Glu248Lys
ENST00000530292.3:c.343G>A	ENSP00000432885.2:p.Glu115Lys
ENST00000635986.2:c.742G>A	ENSP00000490653.2:p.Glu248Lys
ENST00000636774.1:c.742G>A	ENSP00000489799.1:p.Glu248Lys
ENST00000666746.1:c.399G>A
ENST00000672071.1:n.940G>A
ENST00000268124.9:c.742G>A	ENSP00000268124.5:p.Glu248Lys
ENST00000442287.6:c.742G>A	ENSP00000399851.2:p.Glu248Lys
ENST00000631044.2:c.*125G>A	ENSP00000486730.1:n.*125G>A
NM_001126131.1:c.742G>A	NP_001119603.1:p.Glu248Lys
NM_002693.2:c.742G>A	NP_002684.1:p.Glu248Lys
NM_001126131.2:c.742G>A	NP_001119603.1:p.Glu248Lys
NM_002693.3:c.742G>A MANE Select	NP_002684.1:p.Glu248Lys