Canonical Allele Identifier: CA393774243

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 2844027
• ClinVar RCV Id: RCV003628433 ; RCV004371791
• MyVariant Identifiers: chr15:g.89876835G>C (hg19) ; chr15:g.89333604G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333604G>C , CM000677.2:g.89333604G>C	GRCh38
NC_000015.9:g.89876835G>C , CM000677.1:g.89876835G>C	GRCh37
NC_000015.8:g.87677839G>C	NCBI36
NG_008218.1:g.6192C>G
NG_008218.2:g.6192C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.151C>G (POLG)	ENSP00000516154.1:p.Gln51Glu
ENST00000706918.1:c.206C>G (POLGARF)	ENSP00000516626.1:p.Ala69Gly
ENST00000268124.11:c.151C>G (POLG) MANE Select	ENSP00000268124.5:p.Gln51Glu
ENST00000635986.2:c.151C>G (POLG)	ENSP00000490653.2:p.Gln51Glu
ENST00000636774.1:c.151C>G (POLG)	ENSP00000489799.1:p.Gln51Glu
ENST00000650303.2:c.206C>G (POLG)	ENSP00000497242.2:p.Ala69Gly
ENST00000672071.1:n.349C>G (POLG)
ENST00000268124.9:c.151C>G (POLG)	ENSP00000268124.5:p.Gln51Glu
ENST00000442287.6:c.151C>G (POLG)	ENSP00000399851.2:p.Gln51Glu
ENST00000631044.2:c.151C>G (POLG)	ENSP00000486730.1:p.Gln51Glu
NM_001126131.1:c.151C>G (POLG)	NP_001119603.1:p.Gln51Glu
NM_002693.2:c.151C>G (POLG)	NP_002684.1:p.Gln51Glu
NM_001126131.2:c.151C>G (POLG)	NP_001119603.1:p.Gln51Glu
NM_002693.3:c.151C>G (POLG) MANE Select	NP_002684.1:p.Gln51Glu