Canonical Allele Identifier: CA295631

Gene: POLG

Linked Data

• ClinVar Variation Id: 138754
• ClinVar RCV Id: RCV000153754 ; RCV000281377 ; RCV000284559 ; RCV000758546 ; RCV001789184 ; RCV001789186 ; RCV001789183 ; RCV001789185
• dbSNP Id: rs2302084
• ExAC: 15:89862341 A / G
• gnomAD v2: 15-89862341-A-G
• gnomAD v3: 15-89319110-A-G
• gnomAD v4: 15-89319110-A-G
• MyVariant Identifiers: chr15:g.89862341A>G (hg19) ; chr15:g.89319110A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319110A>G , CM000677.2:g.89319110A>G	GRCh38
NC_000015.9:g.89862341A>G , CM000677.1:g.89862341A>G	GRCh37
NC_000015.8:g.87663345A>G	NCBI36
NG_008218.1:g.20686T>C
NG_011736.1:g.80148A>G , LRG_500:g.80148A>G
NG_008218.2:g.20686T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3105-11T>C	ENSP00000516154.1:n.3105-11T>C
ENST00000268124.11:c.3105-11T>C MANE Select	ENSP00000268124.5:n.3105-11T>C
ENST00000530292.3:c.2706-11T>C	ENSP00000432885.2:n.2706-11T>C
ENST00000635986.2:c.*175-11T>C	ENSP00000490653.2:n.*175-11T>C
ENST00000636530.1:n.65-11T>C
ENST00000636774.1:c.*1672-11T>C	ENSP00000489799.1:n.*1672-11T>C
ENST00000637238.1:c.1914-11T>C	ENSP00000490756.1:n.1914-11T>C
ENST00000637264.1:c.2177-11T>C
ENST00000666746.1:c.2682-11T>C
ENST00000672071.1:n.3303-11T>C
ENST00000672695.1:n.282-11T>C
ENST00000672923.2:n.3105-11T>C
ENST00000268124.9:c.3105-11T>C	ENSP00000268124.5:n.3105-11T>C
ENST00000442287.6:c.3105-11T>C	ENSP00000399851.2:n.3105-11T>C
ENST00000530292.2:c.189-11T>C	ENSP00000432885.1:n.189-11T>C
ENST00000631044.2:c.*2529-11T>C	ENSP00000486730.1:n.*2529-11T>C
NM_001126131.1:c.3105-11T>C	NP_001119603.1:n.3105-11T>C
NM_002693.2:c.3105-11T>C	NP_002684.1:n.3105-11T>C
NM_001126131.2:c.3105-11T>C	NP_001119603.1:n.3105-11T>C
NM_002693.3:c.3105-11T>C MANE Select	NP_002684.1:n.3105-11T>C