Canonical Allele Identifier: CA2194547676

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320850A= , CM000677.2:g.89320850A=	GRCh38
NC_000015.9:g.89864081A= , CM000677.1:g.89864081A=	GRCh37
NC_000015.8:g.87665085A=	NCBI36
NG_008218.1:g.18946T=
NG_008218.2:g.18946T=

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2897T= MANE Select	NP_002684.1:p.Leu966=
ENST00000268124.11:c.2897T= MANE Select	ENSP00000268124.5:p.Leu966=
NM_001126131.1:c.2897T=	NP_001119603.1:p.Leu966=
NM_001126131.2:c.2897T=	NP_001119603.1:p.Leu966=
NM_002693.2:c.2897T=	NP_002684.1:p.Leu966=
ENST00000268124.9:c.2897T=	ENSP00000268124.5:p.Leu966=
ENST00000442287.6:c.2897T=	ENSP00000399851.2:p.Leu966=
ENST00000528881.2:c.494T=
ENST00000530292.3:c.2498T=	ENSP00000432885.2:p.Leu833=
ENST00000530715.5:c.205T=	ENSP00000431395.1:p.Ter69=
ENST00000631044.2:c.*2321T=	ENSP00000486730.1:n.*2321T=
ENST00000635986.2:c.2897T=	ENSP00000490653.2:p.Leu966=
ENST00000636774.1:c.*1464T=	ENSP00000489799.1:n.*1464T=
ENST00000636937.2:c.2897T=	ENSP00000516154.1:p.Leu966=
ENST00000637238.1:c.1706T=	ENSP00000490756.1:n.1706T=
ENST00000637264.1:c.1969T=
ENST00000666746.1:c.2474T=
ENST00000670281.1:c.800+1112T=	ENSP00000499709.1:n.800+1112T=
ENST00000672071.1:n.3095T=
ENST00000672695.1:n.74T=
ENST00000672923.2:n.2839T=