Canonical Allele Identifier: CA393759055

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89868718T>A (hg19) ; chr15:g.89325487T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325487T>A , CM000677.2:g.89325487T>A	GRCh38
NC_000015.9:g.89868718T>A , CM000677.1:g.89868718T>A	GRCh37
NC_000015.8:g.87669722T>A	NCBI36
NG_008218.1:g.14309A>T
NG_008218.2:g.14309A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1912A>T	ENSP00000516154.1:p.Thr638Ser
ENST00000268124.11:c.1912A>T MANE Select	ENSP00000268124.5:p.Thr638Ser
ENST00000530292.3:c.1513A>T	ENSP00000432885.2:p.Thr505Ser
ENST00000635986.2:c.1912A>T	ENSP00000490653.2:p.Thr638Ser
ENST00000636774.1:c.*479A>T	ENSP00000489799.1:n.*479A>T
ENST00000637238.1:c.646+3A>T	ENSP00000490756.1:n.646+3A>T
ENST00000637264.1:c.984A>T
ENST00000666746.1:c.1489A>T
ENST00000670281.1:c.232A>T	ENSP00000499709.1:p.Thr78Ser
ENST00000672071.1:n.2110A>T
ENST00000672923.2:n.2015A>T
ENST00000268124.9:c.1912A>T	ENSP00000268124.5:p.Thr638Ser
ENST00000442287.6:c.1912A>T	ENSP00000399851.2:p.Thr638Ser
ENST00000526314.2:c.294A>T
ENST00000526398.1:c.101A>T
ENST00000532584.5:n.114A>T
ENST00000631044.2:c.*1295A>T	ENSP00000486730.1:n.*1295A>T
NM_001126131.1:c.1912A>T	NP_001119603.1:p.Thr638Ser
NM_002693.2:c.1912A>T	NP_002684.1:p.Thr638Ser
NM_001126131.2:c.1912A>T	NP_001119603.1:p.Thr638Ser
NM_002693.3:c.1912A>T MANE Select	NP_002684.1:p.Thr638Ser