Canonical Allele Identifier: CA7725118

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 966409
• ClinVar RCV Id: RCV001241075 ; RCV002499399 ; RCV003328664
• dbSNP Id: rs759939229
• ExAC: 15:89876584 G / C
• gnomAD v2: 15-89876584-G-C
• gnomAD v3: 15-89333353-G-C
• gnomAD v4: 15-89333353-G-C
• MyVariant Identifiers: chr15:g.89876584G>C (hg19) ; chr15:g.89333353G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333353G>C , CM000677.2:g.89333353G>C	GRCh38
NC_000015.9:g.89876584G>C , CM000677.1:g.89876584G>C	GRCh37
NC_000015.8:g.87677588G>C	NCBI36
NG_008218.1:g.6443C>G
NG_008218.2:g.6443C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.402C>G (POLG)	ENSP00000516154.1:p.Asn134Lys
ENST00000706918.1:c.457C>G (POLGARF)	ENSP00000516626.1:p.Pro153Ala
ENST00000268124.11:c.402C>G (POLG) MANE Select	ENSP00000268124.5:p.Asn134Lys
ENST00000530292.3:c.3C>G (POLG)	ENSP00000432885.2:p.Asn1Lys
ENST00000635986.2:c.402C>G (POLG)	ENSP00000490653.2:p.Asn134Lys
ENST00000636774.1:c.402C>G (POLG)	ENSP00000489799.1:p.Asn134Lys
ENST00000650303.2:c.457C>G (POLG)	ENSP00000497242.2:p.Pro153Ala
ENST00000666746.1:c.59C>G (POLG)
ENST00000672071.1:n.600C>G (POLG)
ENST00000268124.9:c.402C>G (POLG)	ENSP00000268124.5:p.Asn134Lys
ENST00000442287.6:c.402C>G (POLG)	ENSP00000399851.2:p.Asn134Lys
ENST00000631044.2:c.402C>G (POLG)	ENSP00000486730.1:p.Asn134Lys
NM_001126131.1:c.402C>G (POLG)	NP_001119603.1:p.Asn134Lys
NM_002693.2:c.402C>G (POLG)	NP_002684.1:p.Asn134Lys
NM_001126131.2:c.402C>G (POLG)	NP_001119603.1:p.Asn134Lys
NM_002693.3:c.402C>G (POLG) MANE Select	NP_002684.1:p.Asn134Lys