Canonical Allele Identifier: CA2194562475

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328944G= , CM000677.2:g.89328944G=	GRCh38
NC_000015.9:g.89872175G= , CM000677.1:g.89872175G=	GRCh37
NC_000015.8:g.87673179G=	NCBI36
NG_008218.1:g.10852C=
NG_008218.2:g.10852C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1022C=	ENSP00000516154.1:p.Ala341=
ENST00000268124.11:c.1022C= MANE Select	ENSP00000268124.5:p.Ala341=
ENST00000530292.3:c.623C=	ENSP00000432885.2:p.Ala208=
ENST00000635986.2:c.1022C=	ENSP00000490653.2:p.Ala341=
ENST00000636774.1:c.1022C=	ENSP00000489799.1:p.Ala341=
ENST00000637264.1:c.94C=
ENST00000666746.1:c.679C=
ENST00000672071.1:n.1220C=
ENST00000672923.2:n.19C=
ENST00000268124.9:c.1022C=	ENSP00000268124.5:p.Ala341=
ENST00000442287.6:c.1022C=	ENSP00000399851.2:p.Ala341=
ENST00000631044.2:c.*405C=	ENSP00000486730.1:n.*405C=
NM_001126131.1:c.1022C=	NP_001119603.1:p.Ala341=
NM_002693.2:c.1022C=	NP_002684.1:p.Ala341=
NM_001126131.2:c.1022C=	NP_001119603.1:p.Ala341=
NM_002693.3:c.1022C= MANE Select	NP_002684.1:p.Ala341=