Canonical Allele Identifier: CA302712

Gene: POLG

Linked Data

• ClinVar Variation Id: 193643
• ClinVar RCV Id: RCV000173762 ; RCV000538134 ; RCV000710183 ; RCV000768055 ; RCV001263354 ; RCV002313026 ; RCV003985737
• dbSNP Id: rs147407423
• ExAC: 15:89868793 G / A
• gnomAD v2: 15-89868793-G-A
• gnomAD v3: 15-89325562-G-A
• gnomAD v4: 15-89325562-G-A
• MyVariant Identifiers: chr15:g.89868793G>A (hg19) ; chr15:g.89325562G>A (hg38)
• PubMed: PMID:21880868 ; PMID:28130605

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325562G>A , CM000677.2:g.89325562G>A	GRCh38
NC_000015.9:g.89868793G>A , CM000677.1:g.89868793G>A	GRCh37
NC_000015.8:g.87669797G>A	NCBI36
NG_008218.1:g.14234C>T
NG_008218.2:g.14234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1837C>T	ENSP00000516154.1:p.His613Tyr
ENST00000268124.11:c.1837C>T MANE Select	ENSP00000268124.5:p.His613Tyr
ENST00000530292.3:c.1438C>T	ENSP00000432885.2:p.His480Tyr
ENST00000635986.2:c.1837C>T	ENSP00000490653.2:p.His613Tyr
ENST00000636774.1:c.*404C>T	ENSP00000489799.1:n.*404C>T
ENST00000637238.1:c.574C>T	ENSP00000490756.1:p.His192Tyr
ENST00000637264.1:c.909C>T
ENST00000666746.1:c.1414C>T
ENST00000670281.1:c.157C>T	ENSP00000499709.1:p.His53Tyr
ENST00000672071.1:n.2035C>T
ENST00000672923.2:n.1940C>T
ENST00000268124.9:c.1837C>T	ENSP00000268124.5:p.His613Tyr
ENST00000442287.6:c.1837C>T	ENSP00000399851.2:p.His613Tyr
ENST00000526314.2:c.219C>T
ENST00000526398.1:c.26C>T
ENST00000532584.5:n.39C>T
ENST00000631044.2:c.*1220C>T	ENSP00000486730.1:n.*1220C>T
NM_001126131.1:c.1837C>T	NP_001119603.1:p.His613Tyr
NM_002693.2:c.1837C>T	NP_002684.1:p.His613Tyr
NM_001126131.2:c.1837C>T	NP_001119603.1:p.His613Tyr
NM_002693.3:c.1837C>T MANE Select	NP_002684.1:p.His613Tyr