Canonical Allele Identifier: CA2194555240

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323422A= , CM000677.2:g.89323422A=	GRCh38
NC_000015.9:g.89866653A= , CM000677.1:g.89866653A=	GRCh37
NC_000015.8:g.87667657A=	NCBI36
NG_008218.1:g.16374T=
NG_008218.2:g.16374T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2247T=	ENSP00000516154.1:p.Phe749=
ENST00000268124.11:c.2247T= MANE Select	ENSP00000268124.5:p.Phe749=
ENST00000530292.3:c.1848T=	ENSP00000432885.2:p.Phe616=
ENST00000635986.2:c.2247T=	ENSP00000490653.2:p.Phe749=
ENST00000636774.1:c.*814T=	ENSP00000489799.1:n.*814T=
ENST00000637238.1:c.944T=	ENSP00000490756.1:n.944T=
ENST00000637264.1:c.1319T=
ENST00000666746.1:c.1824T=
ENST00000670281.1:c.567T=	ENSP00000499709.1:p.Phe189=
ENST00000672071.1:n.2445T=
ENST00000672923.2:n.2350T=
ENST00000268124.9:c.2247T=	ENSP00000268124.5:p.Phe749=
ENST00000442287.6:c.2247T=	ENSP00000399851.2:p.Phe749=
ENST00000526314.2:c.539+393T=
ENST00000526398.1:c.396T=
ENST00000528881.2:c.16T=
ENST00000530715.5:c.6T=	ENSP00000431395.1:p.Phe2=
ENST00000532584.5:n.449T=
ENST00000631044.2:c.*1671T=	ENSP00000486730.1:n.*1671T=
NM_001126131.1:c.2247T=	NP_001119603.1:p.Phe749=
NM_002693.2:c.2247T=	NP_002684.1:p.Phe749=
NM_001126131.2:c.2247T=	NP_001119603.1:p.Phe749=
NM_002693.3:c.2247T= MANE Select	NP_002684.1:p.Phe749=