Canonical Allele Identifier: CA123152

Gene: POLG

Linked Data

• ClinVar Variation Id: 13510
• ClinVar RCV Id: RCV000014464 ; RCV000528996 ; RCV000676325
• dbSNP Id: rs121918052
• ExAC: 15:89870237 C / G
• gnomAD v2: 15-89870237-C-G
• gnomAD v4: 15-89327006-C-G
• MyVariant Identifiers: chr15:g.89870237C>G (hg19) ; chr15:g.89327006C>G (hg38)
• PubMed: PMID:15477547 ; PMID:15824347 ; PMID:22189570 ; PMID:25025039

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327006C>G , CM000677.2:g.89327006C>G	GRCh38
NC_000015.9:g.89870237C>G , CM000677.1:g.89870237C>G	GRCh37
NC_000015.8:g.87671241C>G	NCBI36
NG_008218.1:g.12790G>C
NG_008218.2:g.12790G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1491G>C	ENSP00000516154.1:p.Gln497His
ENST00000268124.11:c.1491G>C MANE Select	ENSP00000268124.5:p.Gln497His
ENST00000530292.3:c.1092G>C	ENSP00000432885.2:p.Gln364His
ENST00000635986.2:c.1491G>C	ENSP00000490653.2:p.Gln497His
ENST00000636774.1:c.*58G>C	ENSP00000489799.1:n.*58G>C
ENST00000637238.1:c.228G>C	ENSP00000490756.1:p.Gln76His
ENST00000637264.1:c.563G>C
ENST00000666746.1:c.1068G>C
ENST00000672071.1:n.1689G>C
ENST00000672923.2:n.1594G>C
ENST00000268124.9:c.1491G>C	ENSP00000268124.5:p.Gln497His
ENST00000442287.6:c.1491G>C	ENSP00000399851.2:p.Gln497His
ENST00000631044.2:c.*874G>C	ENSP00000486730.1:n.*874G>C
NM_001126131.1:c.1491G>C	NP_001119603.1:p.Gln497His
NM_002693.2:c.1491G>C	NP_002684.1:p.Gln497His
NM_001126131.2:c.1491G>C	NP_001119603.1:p.Gln497His
NM_002693.3:c.1491G>C MANE Select	NP_002684.1:p.Gln497His