Canonical Allele Identifier: CA492289014

Gene: POLG

Linked Data

• dbSNP Id: rs774005462
• MyVariant Identifiers: chr15:g.89864149A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320918A>C , CM000677.2:g.89320918A>C	GRCh38
NC_000015.9:g.89864149A>C , CM000677.1:g.89864149A>C	GRCh37
NC_000015.8:g.87665153A>C	NCBI36
NG_008218.1:g.18878T>G
NG_008218.2:g.18878T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2829T>G	ENSP00000516154.1:p.Arg943=
ENST00000268124.11:c.2829T>G MANE Select	ENSP00000268124.5:p.Arg943=
ENST00000530292.3:c.2430T>G	ENSP00000432885.2:p.Arg810=
ENST00000635986.2:c.2829T>G	ENSP00000490653.2:p.Arg943=
ENST00000636774.1:c.*1396T>G	ENSP00000489799.1:n.*1396T>G
ENST00000637238.1:c.1638T>G	ENSP00000490756.1:n.1638T>G
ENST00000637264.1:c.1901T>G
ENST00000666746.1:c.2406T>G
ENST00000670281.1:c.800+1044T>G	ENSP00000499709.1:n.800+1044T>G
ENST00000672071.1:n.3027T>G
ENST00000672695.1:n.6T>G
ENST00000672923.2:n.2771T>G
ENST00000268124.9:c.2829T>G	ENSP00000268124.5:p.Arg943=
ENST00000442287.6:c.2829T>G	ENSP00000399851.2:p.Arg943=
ENST00000528881.2:c.426T>G
ENST00000530715.5:c.186-49T>G	ENSP00000431395.1:n.186-49T>G
ENST00000631044.2:c.*2253T>G	ENSP00000486730.1:n.*2253T>G
NM_001126131.1:c.2829T>G	NP_001119603.1:p.Arg943=
NM_002693.2:c.2829T>G	NP_002684.1:p.Arg943=
NM_001126131.2:c.2829T>G	NP_001119603.1:p.Arg943=
NM_002693.3:c.2829T>G MANE Select	NP_002684.1:p.Arg943=