Canonical Allele Identifier: CA10602234

Gene: POLG

Linked Data

• ClinVar Variation Id: 619328
• ClinVar RCV Id: RCV000758309
• dbSNP Id: rs1567187057
• MyVariant Identifiers: chr15:g.89864976G>C (hg19) ; chr15:g.89321745G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321745G>C , CM000677.2:g.89321745G>C	GRCh38
NC_000015.9:g.89864976G>C , CM000677.1:g.89864976G>C	GRCh37
NC_000015.8:g.87665980G>C	NCBI36
NG_008218.1:g.18051C>G
NG_008218.2:g.18051C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2589C>G	ENSP00000516154.1:p.Ser863Arg
ENST00000268124.11:c.2589C>G MANE Select	ENSP00000268124.5:p.Ser863Arg
ENST00000530292.3:c.2190C>G	ENSP00000432885.2:p.Ser730Arg
ENST00000635986.2:c.2589C>G	ENSP00000490653.2:p.Ser863Arg
ENST00000636774.1:c.*1156C>G	ENSP00000489799.1:n.*1156C>G
ENST00000637238.1:c.1286C>G	ENSP00000490756.1:n.1286C>G
ENST00000637264.1:c.1661C>G
ENST00000666746.1:c.2166C>G
ENST00000670281.1:c.800+217C>G	ENSP00000499709.1:n.800+217C>G
ENST00000672071.1:n.2787C>G
ENST00000672923.2:n.2531C>G
ENST00000268124.9:c.2589C>G	ENSP00000268124.5:p.Ser863Arg
ENST00000442287.6:c.2589C>G	ENSP00000399851.2:p.Ser863Arg
ENST00000528881.2:c.196-485C>G
ENST00000530715.5:c.186-876C>G	ENSP00000431395.1:n.186-876C>G
ENST00000631044.2:c.*2013C>G	ENSP00000486730.1:n.*2013C>G
NM_001126131.1:c.2589C>G	NP_001119603.1:p.Ser863Arg
NM_002693.2:c.2589C>G	NP_002684.1:p.Ser863Arg
NM_001126131.2:c.2589C>G	NP_001119603.1:p.Ser863Arg
NM_002693.3:c.2589C>G MANE Select	NP_002684.1:p.Ser863Arg