Canonical Allele Identifier: CA292843

Gene: POLG

Linked Data

• ClinVar Variation Id: 138759
• ClinVar RCV Id: RCV000127536 ; RCV000758383 ; RCV001171905 ; RCV001526405
• dbSNP Id: rs374224714
• ExAC: 15:89861960 A / G
• gnomAD v2: 15-89861960-A-G
• gnomAD v3: 15-89318729-A-G
• gnomAD v4: 15-89318729-A-G
• MyVariant Identifiers: chr15:g.89861960A>G (hg19) ; chr15:g.89318729A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318729A>G , CM000677.2:g.89318729A>G	GRCh38
NC_000015.9:g.89861960A>G , CM000677.1:g.89861960A>G	GRCh37
NC_000015.8:g.87662964A>G	NCBI36
NG_008218.1:g.21067T>C
NG_011736.1:g.79767A>G , LRG_500:g.79767A>G
NG_008218.2:g.21067T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3294T>C	ENSP00000516154.1:p.Asn1098=
ENST00000268124.11:c.3294T>C MANE Select	ENSP00000268124.5:p.Asn1098=
ENST00000530292.3:c.2895T>C	ENSP00000432885.2:p.Asn965=
ENST00000635986.2:c.*364T>C	ENSP00000490653.2:n.*364T>C
ENST00000636774.1:c.*1861T>C	ENSP00000489799.1:n.*1861T>C
ENST00000637238.1:c.2103T>C	ENSP00000490756.1:n.2103T>C
ENST00000637264.1:c.2366T>C
ENST00000666746.1:c.2871T>C
ENST00000672071.1:n.3492T>C
ENST00000672695.1:n.471T>C
ENST00000672923.2:n.3294T>C
ENST00000268124.9:c.3294T>C	ENSP00000268124.5:p.Asn1098=
ENST00000442287.6:c.3294T>C	ENSP00000399851.2:p.Asn1098=
ENST00000530292.2:c.378T>C	ENSP00000432885.1:p.Asn126=
ENST00000631044.2:c.*2718T>C	ENSP00000486730.1:n.*2718T>C
NM_001126131.1:c.3294T>C	NP_001119603.1:p.Asn1098=
NM_002693.2:c.3294T>C	NP_002684.1:p.Asn1098=
NM_001126131.2:c.3294T>C	NP_001119603.1:p.Asn1098=
NM_002693.3:c.3294T>C MANE Select	NP_002684.1:p.Asn1098=