Canonical Allele Identifier: CA2194542054

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318693G= , CM000677.2:g.89318693G=	GRCh38
NC_000015.9:g.89861924G= , CM000677.1:g.89861924G=	GRCh37
NC_000015.8:g.87662928G=	NCBI36
NG_008218.1:g.21103C=
NG_011736.1:g.79731G= , LRG_500:g.79731G=
NG_008218.2:g.21103C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3330C=	ENSP00000516154.1:p.His1110=
ENST00000268124.11:c.3330C= MANE Select	ENSP00000268124.5:p.His1110=
ENST00000530292.3:c.2931C=	ENSP00000432885.2:p.His977=
ENST00000635986.2:c.*400C=	ENSP00000490653.2:n.*400C=
ENST00000636774.1:c.*1897C=	ENSP00000489799.1:n.*1897C=
ENST00000637238.1:c.2139C=	ENSP00000490756.1:n.2139C=
ENST00000637264.1:c.2402C=
ENST00000666746.1:c.2907C=
ENST00000672071.1:n.3528C=
ENST00000672695.1:n.507C=
ENST00000672923.2:n.3330C=
ENST00000268124.9:c.3330C=	ENSP00000268124.5:p.His1110=
ENST00000442287.6:c.3330C=	ENSP00000399851.2:p.His1110=
ENST00000530292.2:c.414C=	ENSP00000432885.1:p.His138=
ENST00000631044.2:c.*2754C=	ENSP00000486730.1:n.*2754C=
NM_001126131.1:c.3330C=	NP_001119603.1:p.His1110=
NM_002693.2:c.3330C=	NP_002684.1:p.His1110=
NM_001126131.2:c.3330C=	NP_001119603.1:p.His1110=
NM_002693.3:c.3330C= MANE Select	NP_002684.1:p.His1110=