Canonical Allele Identifier: CA292871

Gene: POLG

Linked Data

• ClinVar Variation Id: 138774
• ClinVar RCV Id: RCV000127559 ; RCV000558064 ; RCV000725687 ; RCV002371970 ; RCV001847757 ; RCV003985732
• dbSNP Id: rs147404477
• ExAC: 15:89870556 G / A
• gnomAD v2: 15-89870556-G-A
• gnomAD v3: 15-89327325-G-A
• gnomAD v4: 15-89327325-G-A
• MyVariant Identifiers: chr15:g.89870556G>A (hg19) ; chr15:g.89327325G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327325G>A , CM000677.2:g.89327325G>A	GRCh38
NC_000015.9:g.89870556G>A , CM000677.1:g.89870556G>A	GRCh37
NC_000015.8:g.87671560G>A	NCBI36
NG_008218.1:g.12471C>T
NG_008218.2:g.12471C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1275C>T	ENSP00000516154.1:p.Ala425=
ENST00000268124.11:c.1275C>T MANE Select	ENSP00000268124.5:p.Ala425=
ENST00000530292.3:c.876C>T	ENSP00000432885.2:p.Ala292=
ENST00000635986.2:c.1275C>T	ENSP00000490653.2:p.Ala425=
ENST00000636774.1:c.1275C>T	ENSP00000489799.1:p.Ala425=
ENST00000637238.1:c.12C>T	ENSP00000490756.1:p.Ala4=
ENST00000637264.1:c.347C>T
ENST00000666746.1:c.852C>T
ENST00000672071.1:n.1473C>T
ENST00000672923.2:n.1378C>T
ENST00000268124.9:c.1275C>T	ENSP00000268124.5:p.Ala425=
ENST00000442287.6:c.1275C>T	ENSP00000399851.2:p.Ala425=
ENST00000532363.2:n.133C>T
ENST00000631044.2:c.*658C>T	ENSP00000486730.1:n.*658C>T
NM_001126131.1:c.1275C>T	NP_001119603.1:p.Ala425=
NM_002693.2:c.1275C>T	NP_002684.1:p.Ala425=
NM_001126131.2:c.1275C>T	NP_001119603.1:p.Ala425=
NM_002693.3:c.1275C>T MANE Select	NP_002684.1:p.Ala425=