Canonical Allele Identifier: CA7724658

Gene: POLG

Linked Data

• dbSNP Id: rs752845954
• ExAC: 15:89868691 A / C
• gnomAD v2: 15-89868691-A-C
• gnomAD v4: 15-89325460-A-C
• MyVariant Identifiers: chr15:g.89868691A>C (hg19) ; chr15:g.89325460A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325460A>C , CM000677.2:g.89325460A>C	GRCh38
NC_000015.9:g.89868691A>C , CM000677.1:g.89868691A>C	GRCh37
NC_000015.8:g.87669695A>C	NCBI36
NG_008218.1:g.14336T>G
NG_008218.2:g.14336T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1939T>G	ENSP00000516154.1:p.Cys647Gly
ENST00000268124.11:c.1939T>G MANE Select	ENSP00000268124.5:p.Cys647Gly
ENST00000530292.3:c.1540T>G	ENSP00000432885.2:p.Cys514Gly
ENST00000635986.2:c.1939T>G	ENSP00000490653.2:p.Cys647Gly
ENST00000636774.1:c.*506T>G	ENSP00000489799.1:n.*506T>G
ENST00000637238.1:c.646+30T>G	ENSP00000490756.1:n.646+30T>G
ENST00000637264.1:c.1011T>G
ENST00000666746.1:c.1516T>G
ENST00000670281.1:c.259T>G	ENSP00000499709.1:p.Cys87Gly
ENST00000672071.1:n.2137T>G
ENST00000672923.2:n.2042T>G
ENST00000268124.9:c.1939T>G	ENSP00000268124.5:p.Cys647Gly
ENST00000442287.6:c.1939T>G	ENSP00000399851.2:p.Cys647Gly
ENST00000526314.2:c.321T>G
ENST00000526398.1:c.128T>G
ENST00000526573.1:n.25T>G
ENST00000532584.5:n.141T>G
ENST00000631044.2:c.*1322T>G	ENSP00000486730.1:n.*1322T>G
NM_001126131.1:c.1939T>G	NP_001119603.1:p.Cys647Gly
NM_002693.2:c.1939T>G	NP_002684.1:p.Cys647Gly
NM_001126131.2:c.1939T>G	NP_001119603.1:p.Cys647Gly
NM_002693.3:c.1939T>G MANE Select	NP_002684.1:p.Cys647Gly