Canonical Allele Identifier: CA7725057

Gene: POLG POLGARF

Linked Data

• dbSNP Id: rs770115219
• ExAC: 15:89873473 G / T
• gnomAD v2: 15-89873473-G-T
• MyVariant Identifiers: chr15:g.89873473G>T (hg19) ; chr15:g.89330242G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330242G>T , CM000677.2:g.89330242G>T	GRCh38
NC_000015.9:g.89873473G>T , CM000677.1:g.89873473G>T	GRCh37
NC_000015.8:g.87674477G>T	NCBI36
NG_008218.1:g.9554C>A
NG_008218.2:g.9554C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.694C>A (POLG)	ENSP00000516154.1:p.Arg232Ser
ENST00000706918.1:c.749C>A (POLGARF)	ENSP00000516626.1:p.Ala250Glu
ENST00000268124.11:c.694C>A (POLG) MANE Select	ENSP00000268124.5:p.Arg232Ser
ENST00000530292.3:c.295C>A (POLG)	ENSP00000432885.2:p.Arg99Ser
ENST00000635986.2:c.694C>A (POLG)	ENSP00000490653.2:p.Arg232Ser
ENST00000636774.1:c.694C>A (POLG)	ENSP00000489799.1:p.Arg232Ser
ENST00000637307.1:c.69C>A (POLG)
ENST00000650303.2:c.749C>A (POLG)	ENSP00000497242.2:p.Ala250Glu
ENST00000666746.1:c.351C>A (POLG)
ENST00000672071.1:n.892C>A (POLG)
ENST00000268124.9:c.694C>A (POLG)	ENSP00000268124.5:p.Arg232Ser
ENST00000442287.6:c.694C>A (POLG)	ENSP00000399851.2:p.Arg232Ser
ENST00000631044.2:c.*77C>A (POLG)	ENSP00000486730.1:n.*77C>A
NM_001126131.1:c.694C>A (POLG)	NP_001119603.1:p.Arg232Ser
NM_002693.2:c.694C>A (POLG)	NP_002684.1:p.Arg232Ser
NM_001126131.2:c.694C>A (POLG)	NP_001119603.1:p.Arg232Ser
NM_002693.3:c.694C>A (POLG) MANE Select	NP_002684.1:p.Arg232Ser