Canonical Allele Identifier: CA2194557294

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327009C= , CM000677.2:g.89327009C=	GRCh38
NC_000015.9:g.89870240C= , CM000677.1:g.89870240C=	GRCh37
NC_000015.8:g.87671244C=	NCBI36
NG_008218.1:g.12787G=
NG_008218.2:g.12787G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1488G=	ENSP00000516154.1:p.Lys496=
ENST00000268124.11:c.1488G= MANE Select	ENSP00000268124.5:p.Lys496=
ENST00000530292.3:c.1089G=	ENSP00000432885.2:p.Lys363=
ENST00000635986.2:c.1488G=	ENSP00000490653.2:p.Lys496=
ENST00000636774.1:c.*55G=	ENSP00000489799.1:n.*55G=
ENST00000637238.1:c.225G=	ENSP00000490756.1:p.Lys75=
ENST00000637264.1:c.560G=
ENST00000666746.1:c.1065G=
ENST00000672071.1:n.1686G=
ENST00000672923.2:n.1591G=
ENST00000268124.9:c.1488G=	ENSP00000268124.5:p.Lys496=
ENST00000442287.6:c.1488G=	ENSP00000399851.2:p.Lys496=
ENST00000631044.2:c.*871G=	ENSP00000486730.1:n.*871G=
NM_001126131.1:c.1488G=	NP_001119603.1:p.Lys496=
NM_002693.2:c.1488G=	NP_002684.1:p.Lys496=
NM_001126131.2:c.1488G=	NP_001119603.1:p.Lys496=
NM_002693.3:c.1488G= MANE Select	NP_002684.1:p.Lys496=