Canonical Allele Identifier: CA274554413

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325557G>A , CM000677.2:g.89325557G>A	GRCh38
NC_000015.9:g.89868788G>A , CM000677.1:g.89868788G>A	GRCh37
NC_000015.8:g.87669792G>A	NCBI36
NG_008218.1:g.14239C>T
NG_008218.2:g.14239C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.1842C>T MANE Select	NP_002684.1:p.Tyr614=
ENST00000268124.11:c.1842C>T MANE Select	ENSP00000268124.5:p.Tyr614=
NM_001126131.1:c.1842C>T	NP_001119603.1:p.Tyr614=
NM_001126131.2:c.1842C>T	NP_001119603.1:p.Tyr614=
NM_002693.2:c.1842C>T	NP_002684.1:p.Tyr614=
ENST00000268124.9:c.1842C>T	ENSP00000268124.5:p.Tyr614=
ENST00000442287.6:c.1842C>T	ENSP00000399851.2:p.Tyr614=
ENST00000526314.2:c.224C>T
ENST00000526398.1:c.31C>T
ENST00000530292.3:c.1443C>T	ENSP00000432885.2:p.Tyr481=
ENST00000532584.5:n.44C>T
ENST00000631044.2:c.*1225C>T	ENSP00000486730.1:n.*1225C>T
ENST00000635986.2:c.1842C>T	ENSP00000490653.2:p.Tyr614=
ENST00000636774.1:c.*409C>T	ENSP00000489799.1:n.*409C>T
ENST00000636937.2:c.1842C>T	ENSP00000516154.1:p.Tyr614=
ENST00000637238.1:c.579C>T	ENSP00000490756.1:p.Tyr193=
ENST00000637264.1:c.914C>T
ENST00000666746.1:c.1419C>T
ENST00000670281.1:c.162C>T	ENSP00000499709.1:p.Tyr54=
ENST00000672071.1:n.2040C>T
ENST00000672923.2:n.1945C>T