Canonical Allele Identifier: CA492289275

Gene: POLG

Linked Data

• dbSNP Id: rs2055504235
• MyVariant Identifiers: chr15:g.89868767G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325536G>A , CM000677.2:g.89325536G>A	GRCh38
NC_000015.9:g.89868767G>A , CM000677.1:g.89868767G>A	GRCh37
NC_000015.8:g.87669771G>A	NCBI36
NG_008218.1:g.14260C>T
NG_008218.2:g.14260C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1863C>T	ENSP00000516154.1:p.Gly621=
ENST00000268124.11:c.1863C>T MANE Select	ENSP00000268124.5:p.Gly621=
ENST00000530292.3:c.1464C>T	ENSP00000432885.2:p.Gly488=
ENST00000635986.2:c.1863C>T	ENSP00000490653.2:p.Gly621=
ENST00000636774.1:c.*430C>T	ENSP00000489799.1:n.*430C>T
ENST00000637238.1:c.600C>T	ENSP00000490756.1:p.Gly200=
ENST00000637264.1:c.935C>T
ENST00000666746.1:c.1440C>T
ENST00000670281.1:c.183C>T	ENSP00000499709.1:p.Gly61=
ENST00000672071.1:n.2061C>T
ENST00000672923.2:n.1966C>T
ENST00000268124.9:c.1863C>T	ENSP00000268124.5:p.Gly621=
ENST00000442287.6:c.1863C>T	ENSP00000399851.2:p.Gly621=
ENST00000526314.2:c.245C>T
ENST00000526398.1:c.52C>T
ENST00000532584.5:n.65C>T
ENST00000631044.2:c.*1246C>T	ENSP00000486730.1:n.*1246C>T
NM_001126131.1:c.1863C>T	NP_001119603.1:p.Gly621=
NM_002693.2:c.1863C>T	NP_002684.1:p.Gly621=
NM_001126131.2:c.1863C>T	NP_001119603.1:p.Gly621=
NM_002693.3:c.1863C>T MANE Select	NP_002684.1:p.Gly621=