Canonical Allele Identifier: CA2194565167

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330106T= , CM000677.2:g.89330106T=	GRCh38
NC_000015.9:g.89873337T= , CM000677.1:g.89873337T=	GRCh37
NC_000015.8:g.87674341T=	NCBI36
NG_008218.1:g.9690A=
NG_008218.2:g.9690A=

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.830A= MANE Select	NP_002684.1:p.His277=
ENST00000268124.11:c.830A= MANE Select	ENSP00000268124.5:p.His277=
NM_001126131.1:c.830A=	NP_001119603.1:p.His277=
NM_001126131.2:c.830A=	NP_001119603.1:p.His277=
NM_002693.2:c.830A=	NP_002684.1:p.His277=
ENST00000268124.9:c.830A=	ENSP00000268124.5:p.His277=
ENST00000442287.6:c.830A=	ENSP00000399851.2:p.His277=
ENST00000530292.3:c.431A=	ENSP00000432885.2:p.His144=
ENST00000631044.2:c.*213A=	ENSP00000486730.1:n.*213A=
ENST00000635986.2:c.830A=	ENSP00000490653.2:p.His277=
ENST00000636774.1:c.830A=	ENSP00000489799.1:p.His277=
ENST00000636937.2:c.830A=	ENSP00000516154.1:p.His277=
ENST00000666746.1:c.487A=
ENST00000672071.1:n.1028A=