Canonical Allele Identifier: CA393756344

Gene: POLG

Linked Data

• ClinVar Variation Id: 432080
• ClinVar RCV Id: RCV000497673 ; RCV000509221
• dbSNP Id: rs1555452983
• MyVariant Identifiers: chr15:g.89866016T>G (hg19) ; chr15:g.89322785T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89322785T>G , CM000677.2:g.89322785T>G	GRCh38
NC_000015.9:g.89866016T>G , CM000677.1:g.89866016T>G	GRCh37
NC_000015.8:g.87667020T>G	NCBI36
NG_008218.1:g.17011A>C
NG_008218.2:g.17011A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2383A>C	ENSP00000516154.1:p.Asn795His
ENST00000268124.11:c.2383A>C MANE Select	ENSP00000268124.5:p.Asn795His
ENST00000530292.3:c.1984A>C	ENSP00000432885.2:p.Asn662His
ENST00000635986.2:c.2383A>C	ENSP00000490653.2:p.Asn795His
ENST00000636774.1:c.*950A>C	ENSP00000489799.1:n.*950A>C
ENST00000637238.1:c.1080A>C	ENSP00000490756.1:n.1080A>C
ENST00000637264.1:c.1455A>C
ENST00000666746.1:c.1960A>C
ENST00000670281.1:c.703A>C	ENSP00000499709.1:p.Asn235His
ENST00000672071.1:n.2581A>C
ENST00000672923.2:n.2368+619A>C
ENST00000268124.9:c.2383A>C	ENSP00000268124.5:p.Asn795His
ENST00000442287.6:c.2383A>C	ENSP00000399851.2:p.Asn795His
ENST00000526314.2:c.657A>C
ENST00000528881.2:c.152A>C
ENST00000530715.5:c.142A>C	ENSP00000431395.1:p.Asn48His
ENST00000532584.5:n.467+619A>C
ENST00000631044.2:c.*1807A>C	ENSP00000486730.1:n.*1807A>C
NM_001126131.1:c.2383A>C	NP_001119603.1:p.Asn795His
NM_002693.2:c.2383A>C	NP_002684.1:p.Asn795His
NM_001126131.2:c.2383A>C	NP_001119603.1:p.Asn795His
NM_002693.3:c.2383A>C MANE Select	NP_002684.1:p.Asn795His