Canonical Allele Identifier: CA7724685

Gene: POLG

Linked Data

• ClinVar Variation Id: 619358
• ClinVar RCV Id: RCV000758357 ; RCV003985819
• dbSNP Id: rs775651351
• ExAC: 15:89868833 T / A
• gnomAD v3: 15-89325602-T-A
• gnomAD v4: 15-89325602-T-A
• MyVariant Identifiers: chr15:g.89868833T>A (hg19) ; chr15:g.89325602T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325602T>A , CM000677.2:g.89325602T>A	GRCh38
NC_000015.9:g.89868833T>A , CM000677.1:g.89868833T>A	GRCh37
NC_000015.8:g.87669837T>A	NCBI36
NG_008218.1:g.14194A>T
NG_008218.2:g.14194A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1797A>T	ENSP00000516154.1:p.Thr599=
ENST00000268124.11:c.1797A>T MANE Select	ENSP00000268124.5:p.Thr599=
ENST00000530292.3:c.1398A>T	ENSP00000432885.2:p.Thr466=
ENST00000635986.2:c.1797A>T	ENSP00000490653.2:p.Thr599=
ENST00000636774.1:c.*364A>T	ENSP00000489799.1:n.*364A>T
ENST00000637238.1:c.534A>T	ENSP00000490756.1:p.Thr178=
ENST00000637264.1:c.869A>T
ENST00000666746.1:c.1374A>T
ENST00000670281.1:c.117A>T	ENSP00000499709.1:p.Thr39=
ENST00000672071.1:n.1995A>T
ENST00000672923.2:n.1900A>T
ENST00000268124.9:c.1797A>T	ENSP00000268124.5:p.Thr599=
ENST00000442287.6:c.1797A>T	ENSP00000399851.2:p.Thr599=
ENST00000526314.2:c.179A>T
ENST00000631044.2:c.*1180A>T	ENSP00000486730.1:n.*1180A>T
NM_001126131.1:c.1797A>T	NP_001119603.1:p.Thr599=
NM_002693.2:c.1797A>T	NP_002684.1:p.Thr599=
NM_001126131.2:c.1797A>T	NP_001119603.1:p.Thr599=
NM_002693.3:c.1797A>T MANE Select	NP_002684.1:p.Thr599=