Canonical Allele Identifier: CA7725059

Gene: POLG POLGARF

Linked Data

• dbSNP Id: rs749318451
• ExAC: 15:89873478 T / C
• gnomAD v2: 15-89873478-T-C
• gnomAD v4: 15-89330247-T-C
• MyVariant Identifiers: chr15:g.89873478T>C (hg19) ; chr15:g.89330247T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330247T>C , CM000677.2:g.89330247T>C	GRCh38
NC_000015.9:g.89873478T>C , CM000677.1:g.89873478T>C	GRCh37
NC_000015.8:g.87674482T>C	NCBI36
NG_008218.1:g.9549A>G
NG_008218.2:g.9549A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.689A>G (POLG)	ENSP00000516154.1:p.Glu230Gly
ENST00000706918.1:c.744A>G (POLGARF)	ENSP00000516626.1:p.Gly248=
ENST00000268124.11:c.689A>G (POLG) MANE Select	ENSP00000268124.5:p.Glu230Gly
ENST00000530292.3:c.290A>G (POLG)	ENSP00000432885.2:p.Glu97Gly
ENST00000635986.2:c.689A>G (POLG)	ENSP00000490653.2:p.Glu230Gly
ENST00000636774.1:c.689A>G (POLG)	ENSP00000489799.1:p.Glu230Gly
ENST00000637307.1:c.64A>G (POLG)
ENST00000650303.2:c.744A>G (POLG)	ENSP00000497242.2:p.Gly248=
ENST00000666746.1:c.346A>G (POLG)
ENST00000672071.1:n.887A>G (POLG)
ENST00000268124.9:c.689A>G (POLG)	ENSP00000268124.5:p.Glu230Gly
ENST00000442287.6:c.689A>G (POLG)	ENSP00000399851.2:p.Glu230Gly
ENST00000631044.2:c.*72A>G (POLG)	ENSP00000486730.1:n.*72A>G
NM_001126131.1:c.689A>G (POLG)	NP_001119603.1:p.Glu230Gly
NM_002693.2:c.689A>G (POLG)	NP_002684.1:p.Glu230Gly
NM_001126131.2:c.689A>G (POLG)	NP_001119603.1:p.Glu230Gly
NM_002693.3:c.689A>G (POLG) MANE Select	NP_002684.1:p.Glu230Gly