Canonical Allele Identifier: CA316850

Gene: POLG

Linked Data

• ClinVar Variation Id: 206604
• ClinVar RCV Id: RCV000188669 ; RCV003765200
• dbSNP Id: rs796052905
• gnomAD v2: 15-89868741-T-C
• gnomAD v3: 15-89325510-T-C
• gnomAD v4: 15-89325510-T-C
• MyVariant Identifiers: chr15:g.89868741T>C (hg19) ; chr15:g.89325510T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325510T>C , CM000677.2:g.89325510T>C	GRCh38
NC_000015.9:g.89868741T>C , CM000677.1:g.89868741T>C	GRCh37
NC_000015.8:g.87669745T>C	NCBI36
NG_008218.1:g.14286A>G
NG_008218.2:g.14286A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1889A>G	ENSP00000516154.1:p.Asn630Ser
ENST00000268124.11:c.1889A>G MANE Select	ENSP00000268124.5:p.Asn630Ser
ENST00000530292.3:c.1490A>G	ENSP00000432885.2:p.Asn497Ser
ENST00000635986.2:c.1889A>G	ENSP00000490653.2:p.Asn630Ser
ENST00000636774.1:c.*456A>G	ENSP00000489799.1:n.*456A>G
ENST00000637238.1:c.626A>G	ENSP00000490756.1:p.Asn209Ser
ENST00000637264.1:c.961A>G
ENST00000666746.1:c.1466A>G
ENST00000670281.1:c.209A>G	ENSP00000499709.1:p.Asn70Ser
ENST00000672071.1:n.2087A>G
ENST00000672923.2:n.1992A>G
ENST00000268124.9:c.1889A>G	ENSP00000268124.5:p.Asn630Ser
ENST00000442287.6:c.1889A>G	ENSP00000399851.2:p.Asn630Ser
ENST00000526314.2:c.271A>G
ENST00000526398.1:c.78A>G
ENST00000532584.5:n.91A>G
ENST00000631044.2:c.*1272A>G	ENSP00000486730.1:n.*1272A>G
NM_001126131.1:c.1889A>G	NP_001119603.1:p.Asn630Ser
NM_002693.2:c.1889A>G	NP_002684.1:p.Asn630Ser
NM_001126131.2:c.1889A>G	NP_001119603.1:p.Asn630Ser
NM_002693.3:c.1889A>G MANE Select	NP_002684.1:p.Asn630Ser