Canonical Allele Identifier: CA492289702

Gene: POLG

Linked Data

• dbSNP Id: rs1409853470
• gnomAD v2: 15-89870478-A-C
• gnomAD v3: 15-89327247-A-C
• gnomAD v4: 15-89327247-A-C
• MyVariant Identifiers: chr15:g.89870478A>C (hg19) ; chr15:g.89327247A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327247A>C , CM000677.2:g.89327247A>C	GRCh38
NC_000015.9:g.89870478A>C , CM000677.1:g.89870478A>C	GRCh37
NC_000015.8:g.87671482A>C	NCBI36
NG_008218.1:g.12549T>G
NG_008218.2:g.12549T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1353T>G	ENSP00000516154.1:p.Thr451=
ENST00000268124.11:c.1353T>G MANE Select	ENSP00000268124.5:p.Thr451=
ENST00000530292.3:c.954T>G	ENSP00000432885.2:p.Thr318=
ENST00000635986.2:c.1353T>G	ENSP00000490653.2:p.Thr451=
ENST00000636774.1:c.1353T>G	ENSP00000489799.1:p.Thr451=
ENST00000637238.1:c.90T>G	ENSP00000490756.1:p.Thr30=
ENST00000637264.1:c.425T>G
ENST00000666746.1:c.930T>G
ENST00000672071.1:n.1551T>G
ENST00000672923.2:n.1456T>G
ENST00000268124.9:c.1353T>G	ENSP00000268124.5:p.Thr451=
ENST00000442287.6:c.1353T>G	ENSP00000399851.2:p.Thr451=
ENST00000532363.2:n.211T>G
ENST00000631044.2:c.*736T>G	ENSP00000486730.1:n.*736T>G
NM_001126131.1:c.1353T>G	NP_001119603.1:p.Thr451=
NM_002693.2:c.1353T>G	NP_002684.1:p.Thr451=
NM_001126131.2:c.1353T>G	NP_001119603.1:p.Thr451=
NM_002693.3:c.1353T>G MANE Select	NP_002684.1:p.Thr451=