Canonical Allele Identifier: CA2194555235

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323421A= , CM000677.2:g.89323421A=	GRCh38
NC_000015.9:g.89866652A= , CM000677.1:g.89866652A=	GRCh37
NC_000015.8:g.87667656A=	NCBI36
NG_008218.1:g.16375T=
NG_008218.2:g.16375T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2248T=	ENSP00000516154.1:p.Phe750=
ENST00000268124.11:c.2248T= MANE Select	ENSP00000268124.5:p.Phe750=
ENST00000530292.3:c.1849T=	ENSP00000432885.2:p.Phe617=
ENST00000635986.2:c.2248T=	ENSP00000490653.2:p.Phe750=
ENST00000636774.1:c.*815T=	ENSP00000489799.1:n.*815T=
ENST00000637238.1:c.945T=	ENSP00000490756.1:n.945T=
ENST00000637264.1:c.1320T=
ENST00000666746.1:c.1825T=
ENST00000670281.1:c.568T=	ENSP00000499709.1:p.Phe190=
ENST00000672071.1:n.2446T=
ENST00000672923.2:n.2351T=
ENST00000268124.9:c.2248T=	ENSP00000268124.5:p.Phe750=
ENST00000442287.6:c.2248T=	ENSP00000399851.2:p.Phe750=
ENST00000526314.2:c.539+394T=
ENST00000526398.1:c.397T=
ENST00000528881.2:c.17T=
ENST00000530715.5:c.7T=	ENSP00000431395.1:p.Phe3=
ENST00000532584.5:n.450T=
ENST00000631044.2:c.*1672T=	ENSP00000486730.1:n.*1672T=
NM_001126131.1:c.2248T=	NP_001119603.1:p.Phe750=
NM_002693.2:c.2248T=	NP_002684.1:p.Phe750=
NM_001126131.2:c.2248T=	NP_001119603.1:p.Phe750=
NM_002693.3:c.2248T= MANE Select	NP_002684.1:p.Phe750=