Canonical Allele Identifier: CA7725058

Gene: POLG POLGARF

Linked Data

• dbSNP Id: rs775872024
• ExAC: 15:89873475 T / C
• MyVariant Identifiers: chr15:g.89873475T>C (hg19) ; chr15:g.89330244T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330244T>C , CM000677.2:g.89330244T>C	GRCh38
NC_000015.9:g.89873475T>C , CM000677.1:g.89873475T>C	GRCh37
NC_000015.8:g.87674479T>C	NCBI36
NG_008218.1:g.9552A>G
NG_008218.2:g.9552A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.692A>G (POLG)	ENSP00000516154.1:p.Glu231Gly
ENST00000706918.1:c.747A>G (POLGARF)	ENSP00000516626.1:p.Arg249=
ENST00000268124.11:c.692A>G (POLG) MANE Select	ENSP00000268124.5:p.Glu231Gly
ENST00000530292.3:c.293A>G (POLG)	ENSP00000432885.2:p.Glu98Gly
ENST00000635986.2:c.692A>G (POLG)	ENSP00000490653.2:p.Glu231Gly
ENST00000636774.1:c.692A>G (POLG)	ENSP00000489799.1:p.Glu231Gly
ENST00000637307.1:c.67A>G (POLG)
ENST00000650303.2:c.747A>G (POLG)	ENSP00000497242.2:p.Arg249=
ENST00000666746.1:c.349A>G (POLG)
ENST00000672071.1:n.890A>G (POLG)
ENST00000268124.9:c.692A>G (POLG)	ENSP00000268124.5:p.Glu231Gly
ENST00000442287.6:c.692A>G (POLG)	ENSP00000399851.2:p.Glu231Gly
ENST00000631044.2:c.*75A>G (POLG)	ENSP00000486730.1:n.*75A>G
NM_001126131.1:c.692A>G (POLG)	NP_001119603.1:p.Glu231Gly
NM_002693.2:c.692A>G (POLG)	NP_002684.1:p.Glu231Gly
NM_001126131.2:c.692A>G (POLG)	NP_001119603.1:p.Glu231Gly
NM_002693.3:c.692A>G (POLG) MANE Select	NP_002684.1:p.Glu231Gly