Canonical Allele Identifier: CA2194538930

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317389G= , CM000677.2:g.89317389G=	GRCh38
NC_000015.9:g.89860620G= , CM000677.1:g.89860620G=	GRCh37
NC_000015.8:g.87661624G=	NCBI36
NG_008218.1:g.22407C=
NG_011736.1:g.78427G= , LRG_500:g.78427G=
NG_008218.2:g.22407C=

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.3630C= MANE Select	NP_002684.1:p.Tyr1210=
ENST00000268124.11:c.3630C= MANE Select	ENSP00000268124.5:p.Tyr1210=
NM_001126131.1:c.3630C=	NP_001119603.1:p.Tyr1210=
NM_001126131.2:c.3630C=	NP_001119603.1:p.Tyr1210=
NM_002693.2:c.3630C=	NP_002684.1:p.Tyr1210=
ENST00000268124.9:c.3630C=	ENSP00000268124.5:p.Tyr1210=
ENST00000442287.6:c.3630C=	ENSP00000399851.2:p.Tyr1210=
ENST00000526671.1:n.440C=
ENST00000530292.2:c.813C=	ENSP00000432885.1:n.813C=
ENST00000530292.3:c.3330C=	ENSP00000432885.2:n.3330C=
ENST00000631044.2:c.*3054C=	ENSP00000486730.1:n.*3054C=
ENST00000635986.2:c.*700C=	ENSP00000490653.2:n.*700C=
ENST00000636774.1:c.*2234C=	ENSP00000489799.1:n.*2234C=
ENST00000636937.2:c.3630C=	ENSP00000516154.1:p.Tyr1210=
ENST00000637238.1:c.2538C=	ENSP00000490756.1:n.2538C=
ENST00000637264.1:c.2642C=
ENST00000666746.1:c.3207C=
ENST00000672071.1:n.4832C=
ENST00000672695.1:n.1409C=
ENST00000672923.2:n.3630C=