Canonical Allele Identifier: CA7724667

Gene: POLG

Linked Data

• ClinVar Variation Id: 2965247
• ClinVar RCV Id: RCV003823413
• dbSNP Id: rs773697653
• ExAC: 15:89868734 G / C
• gnomAD v2: 15-89868734-G-C
• gnomAD v3: 15-89325503-G-C
• gnomAD v4: 15-89325503-G-C
• MyVariant Identifiers: chr15:g.89868734G>C (hg19) ; chr15:g.89325503G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325503G>C , CM000677.2:g.89325503G>C	GRCh38
NC_000015.9:g.89868734G>C , CM000677.1:g.89868734G>C	GRCh37
NC_000015.8:g.87669738G>C	NCBI36
NG_008218.1:g.14293C>G
NG_008218.2:g.14293C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1896C>G	ENSP00000516154.1:p.Ala632=
ENST00000268124.11:c.1896C>G MANE Select	ENSP00000268124.5:p.Ala632=
ENST00000530292.3:c.1497C>G	ENSP00000432885.2:p.Ala499=
ENST00000635986.2:c.1896C>G	ENSP00000490653.2:p.Ala632=
ENST00000636774.1:c.*463C>G	ENSP00000489799.1:n.*463C>G
ENST00000637238.1:c.633C>G	ENSP00000490756.1:p.Ala211=
ENST00000637264.1:c.968C>G
ENST00000666746.1:c.1473C>G
ENST00000670281.1:c.216C>G	ENSP00000499709.1:p.Ala72=
ENST00000672071.1:n.2094C>G
ENST00000672923.2:n.1999C>G
ENST00000268124.9:c.1896C>G	ENSP00000268124.5:p.Ala632=
ENST00000442287.6:c.1896C>G	ENSP00000399851.2:p.Ala632=
ENST00000526314.2:c.278C>G
ENST00000526398.1:c.85C>G
ENST00000532584.5:n.98C>G
ENST00000631044.2:c.*1279C>G	ENSP00000486730.1:n.*1279C>G
NM_001126131.1:c.1896C>G	NP_001119603.1:p.Ala632=
NM_002693.2:c.1896C>G	NP_002684.1:p.Ala632=
NM_001126131.2:c.1896C>G	NP_001119603.1:p.Ala632=
NM_002693.3:c.1896C>G MANE Select	NP_002684.1:p.Ala632=