Canonical Allele Identifier: CA7724562

Gene: POLG

Linked Data

• ClinVar Variation Id: 1585198
• ClinVar RCV Id: RCV002095226
• dbSNP Id: rs374951133
• ExAC: 15:89866762 A / G
• gnomAD v2: 15-89866762-A-G
• gnomAD v3: 15-89323531-A-G
• gnomAD v4: 15-89323531-A-G
• MyVariant Identifiers: chr15:g.89866762A>G (hg19) ; chr15:g.89323531A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323531A>G , CM000677.2:g.89323531A>G	GRCh38
NC_000015.9:g.89866762A>G , CM000677.1:g.89866762A>G	GRCh37
NC_000015.8:g.87667766A>G	NCBI36
NG_008218.1:g.16265T>C
NG_008218.2:g.16265T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2158-20T>C	ENSP00000516154.1:n.2158-20T>C
ENST00000268124.11:c.2158-20T>C MANE Select	ENSP00000268124.5:n.2158-20T>C
ENST00000530292.3:c.1759-20T>C	ENSP00000432885.2:n.1759-20T>C
ENST00000635986.2:c.2158-20T>C	ENSP00000490653.2:n.2158-20T>C
ENST00000636774.1:c.*725-20T>C	ENSP00000489799.1:n.*725-20T>C
ENST00000637238.1:c.855-20T>C	ENSP00000490756.1:n.855-20T>C
ENST00000637264.1:c.1230-20T>C
ENST00000666746.1:c.1735-20T>C
ENST00000670281.1:c.478-20T>C	ENSP00000499709.1:n.478-20T>C
ENST00000672071.1:n.2356-20T>C
ENST00000672923.2:n.2261-20T>C
ENST00000268124.9:c.2158-20T>C	ENSP00000268124.5:n.2158-20T>C
ENST00000442287.6:c.2158-20T>C	ENSP00000399851.2:n.2158-20T>C
ENST00000526314.2:c.539+284T>C
ENST00000526398.1:c.307-20T>C
ENST00000526573.1:n.527T>C
ENST00000532584.5:n.360-20T>C
ENST00000533857.1:n.556T>C
ENST00000631044.2:c.*1562T>C	ENSP00000486730.1:n.*1562T>C
NM_001126131.1:c.2158-20T>C	NP_001119603.1:n.2158-20T>C
NM_002693.2:c.2158-20T>C	NP_002684.1:n.2158-20T>C
NM_001126131.2:c.2158-20T>C	NP_001119603.1:n.2158-20T>C
NM_002693.3:c.2158-20T>C MANE Select	NP_002684.1:n.2158-20T>C