Canonical Allele Identifier: CA492289004

Gene: POLG

Linked Data

• dbSNP Id: rs1263646656
• gnomAD v3: 15-89320909-G-A
• gnomAD v4: 15-89320909-G-A
• MyVariant Identifiers: chr15:g.89864140G>A (hg19) ; chr15:g.89320909G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320909G>A , CM000677.2:g.89320909G>A	GRCh38
NC_000015.9:g.89864140G>A , CM000677.1:g.89864140G>A	GRCh37
NC_000015.8:g.87665144G>A	NCBI36
NG_008218.1:g.18887C>T
NG_008218.2:g.18887C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2838C>T	ENSP00000516154.1:p.Ala946=
ENST00000268124.11:c.2838C>T MANE Select	ENSP00000268124.5:p.Ala946=
ENST00000530292.3:c.2439C>T	ENSP00000432885.2:p.Ala813=
ENST00000635986.2:c.2838C>T	ENSP00000490653.2:p.Ala946=
ENST00000636774.1:c.*1405C>T	ENSP00000489799.1:n.*1405C>T
ENST00000637238.1:c.1647C>T	ENSP00000490756.1:n.1647C>T
ENST00000637264.1:c.1910C>T
ENST00000666746.1:c.2415C>T
ENST00000670281.1:c.800+1053C>T	ENSP00000499709.1:n.800+1053C>T
ENST00000672071.1:n.3036C>T
ENST00000672695.1:n.15C>T
ENST00000672923.2:n.2780C>T
ENST00000268124.9:c.2838C>T	ENSP00000268124.5:p.Ala946=
ENST00000442287.6:c.2838C>T	ENSP00000399851.2:p.Ala946=
ENST00000528881.2:c.435C>T
ENST00000530715.5:c.186-40C>T	ENSP00000431395.1:n.186-40C>T
ENST00000631044.2:c.*2262C>T	ENSP00000486730.1:n.*2262C>T
NM_001126131.1:c.2838C>T	NP_001119603.1:p.Ala946=
NM_002693.2:c.2838C>T	NP_002684.1:p.Ala946=
NM_001126131.2:c.2838C>T	NP_001119603.1:p.Ala946=
NM_002693.3:c.2838C>T MANE Select	NP_002684.1:p.Ala946=