Canonical Allele Identifier: CA2194539288

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317470G= , CM000677.2:g.89317470G=	GRCh38
NC_000015.9:g.89860701G= , CM000677.1:g.89860701G=	GRCh37
NC_000015.8:g.87661705G=	NCBI36
NG_008218.1:g.22326C=
NG_011736.1:g.78508G= , LRG_500:g.78508G=
NG_008218.2:g.22326C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3549C=	ENSP00000516154.1:p.Val1183=
ENST00000268124.11:c.3549C= MANE Select	ENSP00000268124.5:p.Val1183=
ENST00000530292.3:c.3249C=	ENSP00000432885.2:n.3249C=
ENST00000635986.2:c.*619C=	ENSP00000490653.2:n.*619C=
ENST00000636774.1:c.*2153C=	ENSP00000489799.1:n.*2153C=
ENST00000637042.1:n.73C=
ENST00000637238.1:c.2457C=	ENSP00000490756.1:n.2457C=
ENST00000637264.1:c.2561C=
ENST00000666746.1:c.3126C=
ENST00000672071.1:n.4751C=
ENST00000672695.1:n.1328C=
ENST00000672923.2:n.3549C=
ENST00000268124.9:c.3549C=	ENSP00000268124.5:p.Val1183=
ENST00000442287.6:c.3549C=	ENSP00000399851.2:p.Val1183=
ENST00000526671.1:n.359C=
ENST00000530292.2:c.732C=	ENSP00000432885.1:n.732C=
ENST00000631044.2:c.*2973C=	ENSP00000486730.1:n.*2973C=
NM_001126131.1:c.3549C=	NP_001119603.1:p.Val1183=
NM_002693.2:c.3549C=	NP_002684.1:p.Val1183=
NM_001126131.2:c.3549C=	NP_001119603.1:p.Val1183=
NM_002693.3:c.3549C= MANE Select	NP_002684.1:p.Val1183=