Canonical Allele Identifier: CA2194562830

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89329055A= , CM000677.2:g.89329055A=	GRCh38
NC_000015.9:g.89872286A= , CM000677.1:g.89872286A=	GRCh37
NC_000015.8:g.87673290A=	NCBI36
NG_008218.1:g.10741T=
NG_008218.2:g.10741T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.911T=	ENSP00000516154.1:p.Leu304=
ENST00000268124.11:c.911T= MANE Select	ENSP00000268124.5:p.Leu304=
ENST00000530292.3:c.512T=	ENSP00000432885.2:p.Leu171=
ENST00000635986.2:c.911T=	ENSP00000490653.2:p.Leu304=
ENST00000636774.1:c.911T=	ENSP00000489799.1:p.Leu304=
ENST00000666746.1:c.568T=
ENST00000672071.1:n.1109T=
ENST00000268124.9:c.911T=	ENSP00000268124.5:p.Leu304=
ENST00000442287.6:c.911T=	ENSP00000399851.2:p.Leu304=
ENST00000631044.2:c.*294T=	ENSP00000486730.1:n.*294T=
NM_001126131.1:c.911T=	NP_001119603.1:p.Leu304=
NM_002693.2:c.911T=	NP_002684.1:p.Leu304=
NM_001126131.2:c.911T=	NP_001119603.1:p.Leu304=
NM_002693.3:c.911T= MANE Select	NP_002684.1:p.Leu304=