Canonical Allele Identifier: CA7724339

Gene: POLG

Linked Data

• dbSNP Id: rs781364914
• ExAC: 15:89864143 A / C
• gnomAD v2: 15-89864143-A-C
• gnomAD v3: 15-89320912-A-C
• gnomAD v4: 15-89320912-A-C
• MyVariant Identifiers: chr15:g.89864143A>C (hg19) ; chr15:g.89320912A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320912A>C , CM000677.2:g.89320912A>C	GRCh38
NC_000015.9:g.89864143A>C , CM000677.1:g.89864143A>C	GRCh37
NC_000015.8:g.87665147A>C	NCBI36
NG_008218.1:g.18884T>G
NG_008218.2:g.18884T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2835T>G	ENSP00000516154.1:p.His945Gln
ENST00000268124.11:c.2835T>G MANE Select	ENSP00000268124.5:p.His945Gln
ENST00000530292.3:c.2436T>G	ENSP00000432885.2:p.His812Gln
ENST00000635986.2:c.2835T>G	ENSP00000490653.2:p.His945Gln
ENST00000636774.1:c.*1402T>G	ENSP00000489799.1:n.*1402T>G
ENST00000637238.1:c.1644T>G	ENSP00000490756.1:n.1644T>G
ENST00000637264.1:c.1907T>G
ENST00000666746.1:c.2412T>G
ENST00000670281.1:c.800+1050T>G	ENSP00000499709.1:n.800+1050T>G
ENST00000672071.1:n.3033T>G
ENST00000672695.1:n.12T>G
ENST00000672923.2:n.2777T>G
ENST00000268124.9:c.2835T>G	ENSP00000268124.5:p.His945Gln
ENST00000442287.6:c.2835T>G	ENSP00000399851.2:p.His945Gln
ENST00000528881.2:c.432T>G
ENST00000530715.5:c.186-43T>G	ENSP00000431395.1:n.186-43T>G
ENST00000631044.2:c.*2259T>G	ENSP00000486730.1:n.*2259T>G
NM_001126131.1:c.2835T>G	NP_001119603.1:p.His945Gln
NM_002693.2:c.2835T>G	NP_002684.1:p.His945Gln
NM_001126131.2:c.2835T>G	NP_001119603.1:p.His945Gln
NM_002693.3:c.2835T>G MANE Select	NP_002684.1:p.His945Gln