Canonical Allele Identifier: CA292873

Gene: POLG

Linked Data

• ClinVar Variation Id: 138775
• ClinVar RCV Id: RCV000127560 ; RCV000402563 ; RCV000725999 ; RCV000758496 ; RCV001847758 ; RCV003985733
• dbSNP Id: rs62640034
• ExAC: 15:89870445 C / T
• gnomAD v2: 15-89870445-C-T
• gnomAD v3: 15-89327214-C-T
• gnomAD v4: 15-89327214-C-T
• MyVariant Identifiers: chr15:g.89870445C>T (hg19) ; chr15:g.89327214C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327214C>T , CM000677.2:g.89327214C>T	GRCh38
NC_000015.9:g.89870445C>T , CM000677.1:g.89870445C>T	GRCh37
NC_000015.8:g.87671449C>T	NCBI36
NG_008218.1:g.12582G>A
NG_008218.2:g.12582G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1386G>A	ENSP00000516154.1:p.Ser462=
ENST00000268124.11:c.1386G>A MANE Select	ENSP00000268124.5:p.Ser462=
ENST00000530292.3:c.987G>A	ENSP00000432885.2:p.Ser329=
ENST00000635986.2:c.1386G>A	ENSP00000490653.2:p.Ser462=
ENST00000636774.1:c.1386G>A	ENSP00000489799.1:p.Ser462=
ENST00000637238.1:c.123G>A	ENSP00000490756.1:p.Ser41=
ENST00000637264.1:c.458G>A
ENST00000666746.1:c.963G>A
ENST00000672071.1:n.1584G>A
ENST00000672923.2:n.1489G>A
ENST00000268124.9:c.1386G>A	ENSP00000268124.5:p.Ser462=
ENST00000442287.6:c.1386G>A	ENSP00000399851.2:p.Ser462=
ENST00000532363.2:n.244G>A
ENST00000631044.2:c.*769G>A	ENSP00000486730.1:n.*769G>A
NM_001126131.1:c.1386G>A	NP_001119603.1:p.Ser462=
NM_002693.2:c.1386G>A	NP_002684.1:p.Ser462=
NM_001126131.2:c.1386G>A	NP_001119603.1:p.Ser462=
NM_002693.3:c.1386G>A MANE Select	NP_002684.1:p.Ser462=