Canonical Allele Identifier: CA393765348

Gene: POLG

Linked Data

• gnomAD v4: 15-89328948-G-C
• MyVariant Identifiers: chr15:g.89872179G>C (hg19) ; chr15:g.89328948G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328948G>C , CM000677.2:g.89328948G>C	GRCh38
NC_000015.9:g.89872179G>C , CM000677.1:g.89872179G>C	GRCh37
NC_000015.8:g.87673183G>C	NCBI36
NG_008218.1:g.10848C>G
NG_008218.2:g.10848C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1018C>G	ENSP00000516154.1:p.Pro340Ala
ENST00000268124.11:c.1018C>G MANE Select	ENSP00000268124.5:p.Pro340Ala
ENST00000530292.3:c.619C>G	ENSP00000432885.2:p.Pro207Ala
ENST00000635986.2:c.1018C>G	ENSP00000490653.2:p.Pro340Ala
ENST00000636774.1:c.1018C>G	ENSP00000489799.1:p.Pro340Ala
ENST00000637264.1:c.90C>G
ENST00000666746.1:c.675C>G
ENST00000672071.1:n.1216C>G
ENST00000672923.2:n.15C>G
ENST00000268124.9:c.1018C>G	ENSP00000268124.5:p.Pro340Ala
ENST00000442287.6:c.1018C>G	ENSP00000399851.2:p.Pro340Ala
ENST00000631044.2:c.*401C>G	ENSP00000486730.1:n.*401C>G
NM_001126131.1:c.1018C>G	NP_001119603.1:p.Pro340Ala
NM_002693.2:c.1018C>G	NP_002684.1:p.Pro340Ala
NM_001126131.2:c.1018C>G	NP_001119603.1:p.Pro340Ala
NM_002693.3:c.1018C>G MANE Select	NP_002684.1:p.Pro340Ala