Canonical Allele Identifier: CA2194539275

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317465A= , CM000677.2:g.89317465A=	GRCh38
NC_000015.9:g.89860696A= , CM000677.1:g.89860696A=	GRCh37
NC_000015.8:g.87661700A=	NCBI36
NG_008218.1:g.22331T=
NG_011736.1:g.78503A= , LRG_500:g.78503A=
NG_008218.2:g.22331T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3554T=	ENSP00000516154.1:p.Ile1185=
ENST00000268124.11:c.3554T= MANE Select	ENSP00000268124.5:p.Ile1185=
ENST00000530292.3:c.3254T=	ENSP00000432885.2:n.3254T=
ENST00000635986.2:c.*624T=	ENSP00000490653.2:n.*624T=
ENST00000636774.1:c.*2158T=	ENSP00000489799.1:n.*2158T=
ENST00000637042.1:n.78T=
ENST00000637238.1:c.2462T=	ENSP00000490756.1:n.2462T=
ENST00000637264.1:c.2566T=
ENST00000666746.1:c.3131T=
ENST00000672071.1:n.4756T=
ENST00000672695.1:n.1333T=
ENST00000672923.2:n.3554T=
ENST00000268124.9:c.3554T=	ENSP00000268124.5:p.Ile1185=
ENST00000442287.6:c.3554T=	ENSP00000399851.2:p.Ile1185=
ENST00000526671.1:n.364T=
ENST00000530292.2:c.737T=	ENSP00000432885.1:n.737T=
ENST00000631044.2:c.*2978T=	ENSP00000486730.1:n.*2978T=
NM_001126131.1:c.3554T=	NP_001119603.1:p.Ile1185=
NM_002693.2:c.3554T=	NP_002684.1:p.Ile1185=
NM_001126131.2:c.3554T=	NP_001119603.1:p.Ile1185=
NM_002693.3:c.3554T= MANE Select	NP_002684.1:p.Ile1185=