Canonical Allele Identifier: CA2194558250

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327299T= , CM000677.2:g.89327299T=	GRCh38
NC_000015.9:g.89870530T= , CM000677.1:g.89870530T=	GRCh37
NC_000015.8:g.87671534T=	NCBI36
NG_008218.1:g.12497A=
NG_008218.2:g.12497A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1301A=	ENSP00000516154.1:p.Tyr434=
ENST00000268124.11:c.1301A= MANE Select	ENSP00000268124.5:p.Tyr434=
ENST00000530292.3:c.902A=	ENSP00000432885.2:p.Tyr301=
ENST00000635986.2:c.1301A=	ENSP00000490653.2:p.Tyr434=
ENST00000636774.1:c.1301A=	ENSP00000489799.1:p.Tyr434=
ENST00000637238.1:c.38A=	ENSP00000490756.1:p.Tyr13=
ENST00000637264.1:c.373A=
ENST00000666746.1:c.878A=
ENST00000672071.1:n.1499A=
ENST00000672923.2:n.1404A=
ENST00000268124.9:c.1301A=	ENSP00000268124.5:p.Tyr434=
ENST00000442287.6:c.1301A=	ENSP00000399851.2:p.Tyr434=
ENST00000532363.2:n.159A=
ENST00000631044.2:c.*684A=	ENSP00000486730.1:n.*684A=
NM_001126131.1:c.1301A=	NP_001119603.1:p.Tyr434=
NM_002693.2:c.1301A=	NP_002684.1:p.Tyr434=
NM_001126131.2:c.1301A=	NP_001119603.1:p.Tyr434=
NM_002693.3:c.1301A= MANE Select	NP_002684.1:p.Tyr434=