Canonical Allele Identifier: CA316800

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 206578
• ClinVar RCV Id: RCV000188635 ; RCV000692834 ; RCV000661980 ; RCV000661981 ; RCV002317147
• dbSNP Id: rs753858440
• ExAC: 15:89876526 C / T
• gnomAD v2: 15-89876526-C-T
• gnomAD v3: 15-89333295-C-T
• gnomAD v4: 15-89333295-C-T
• MyVariant Identifiers: chr15:g.89876526C>T (hg19) ; chr15:g.89333295C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333295C>T , CM000677.2:g.89333295C>T	GRCh38
NC_000015.9:g.89876526C>T , CM000677.1:g.89876526C>T	GRCh37
NC_000015.8:g.87677530C>T	NCBI36
NG_008218.1:g.6501G>A
NG_008218.2:g.6501G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.460G>A (POLG)	ENSP00000516154.1:p.Ala154Thr
ENST00000706918.1:c.515G>A (POLGARF)	ENSP00000516626.1:p.Gly172Asp
ENST00000268124.11:c.460G>A (POLG) MANE Select	ENSP00000268124.5:p.Ala154Thr
ENST00000530292.3:c.61G>A (POLG)	ENSP00000432885.2:p.Ala21Thr
ENST00000635986.2:c.460G>A (POLG)	ENSP00000490653.2:p.Ala154Thr
ENST00000636774.1:c.460G>A (POLG)	ENSP00000489799.1:p.Ala154Thr
ENST00000650303.2:c.515G>A (POLG)	ENSP00000497242.2:p.Gly172Asp
ENST00000666746.1:c.117G>A (POLG)
ENST00000672071.1:n.658G>A (POLG)
ENST00000268124.9:c.460G>A (POLG)	ENSP00000268124.5:p.Ala154Thr
ENST00000442287.6:c.460G>A (POLG)	ENSP00000399851.2:p.Ala154Thr
ENST00000631044.2:c.460G>A (POLG)	ENSP00000486730.1:p.Ala154Thr
NM_001126131.1:c.460G>A (POLG)	NP_001119603.1:p.Ala154Thr
NM_002693.2:c.460G>A (POLG)	NP_002684.1:p.Ala154Thr
NM_001126131.2:c.460G>A (POLG)	NP_001119603.1:p.Ala154Thr
NM_002693.3:c.460G>A (POLG) MANE Select	NP_002684.1:p.Ala154Thr