Canonical Allele Identifier: CA7724661

Gene: POLG

Linked Data

• ClinVar Variation Id: 596944
• ClinVar RCV Id: RCV000732926 ; RCV001421051
• dbSNP Id: rs745800212
• ExAC: 15:89868701 A / G
• gnomAD v2: 15-89868701-A-G
• gnomAD v3: 15-89325470-A-G
• gnomAD v4: 15-89325470-A-G
• MyVariant Identifiers: chr15:g.89868701A>G (hg19) ; chr15:g.89325470A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325470A>G , CM000677.2:g.89325470A>G	GRCh38
NC_000015.9:g.89868701A>G , CM000677.1:g.89868701A>G	GRCh37
NC_000015.8:g.87669705A>G	NCBI36
NG_008218.1:g.14326T>C
NG_008218.2:g.14326T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1929T>C	ENSP00000516154.1:p.Ala643=
ENST00000268124.11:c.1929T>C MANE Select	ENSP00000268124.5:p.Ala643=
ENST00000530292.3:c.1530T>C	ENSP00000432885.2:p.Ala510=
ENST00000635986.2:c.1929T>C	ENSP00000490653.2:p.Ala643=
ENST00000636774.1:c.*496T>C	ENSP00000489799.1:n.*496T>C
ENST00000637238.1:c.646+20T>C	ENSP00000490756.1:n.646+20T>C
ENST00000637264.1:c.1001T>C
ENST00000666746.1:c.1506T>C
ENST00000670281.1:c.249T>C	ENSP00000499709.1:p.Ala83=
ENST00000672071.1:n.2127T>C
ENST00000672923.2:n.2032T>C
ENST00000268124.9:c.1929T>C	ENSP00000268124.5:p.Ala643=
ENST00000442287.6:c.1929T>C	ENSP00000399851.2:p.Ala643=
ENST00000526314.2:c.311T>C
ENST00000526398.1:c.118T>C
ENST00000526573.1:n.15T>C
ENST00000532584.5:n.131T>C
ENST00000631044.2:c.*1312T>C	ENSP00000486730.1:n.*1312T>C
NM_001126131.1:c.1929T>C	NP_001119603.1:p.Ala643=
NM_002693.2:c.1929T>C	NP_002684.1:p.Ala643=
NM_001126131.2:c.1929T>C	NP_001119603.1:p.Ala643=
NM_002693.3:c.1929T>C MANE Select	NP_002684.1:p.Ala643=