Canonical Allele Identifier: CA2194549780

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325454A= , CM000677.2:g.89325454A=	GRCh38
NC_000015.9:g.89868685A= , CM000677.1:g.89868685A=	GRCh37
NC_000015.8:g.87669689A=	NCBI36
NG_008218.1:g.14342T=
NG_008218.2:g.14342T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1945T=	ENSP00000516154.1:p.Tyr649=
ENST00000268124.11:c.1945T= MANE Select	ENSP00000268124.5:p.Tyr649=
ENST00000530292.3:c.1546T=	ENSP00000432885.2:p.Tyr516=
ENST00000635986.2:c.1945T=	ENSP00000490653.2:p.Tyr649=
ENST00000636774.1:c.*512T=	ENSP00000489799.1:n.*512T=
ENST00000637238.1:c.646+36T=	ENSP00000490756.1:n.646+36T=
ENST00000637264.1:c.1017T=
ENST00000666746.1:c.1522T=
ENST00000670281.1:c.265T=	ENSP00000499709.1:p.Tyr89=
ENST00000672071.1:n.2143T=
ENST00000672923.2:n.2048T=
ENST00000268124.9:c.1945T=	ENSP00000268124.5:p.Tyr649=
ENST00000442287.6:c.1945T=	ENSP00000399851.2:p.Tyr649=
ENST00000526314.2:c.327T=
ENST00000526398.1:c.134T=
ENST00000526573.1:n.31T=
ENST00000532584.5:n.147T=
ENST00000631044.2:c.*1328T=	ENSP00000486730.1:n.*1328T=
NM_001126131.1:c.1945T=	NP_001119603.1:p.Tyr649=
NM_002693.2:c.1945T=	NP_002684.1:p.Tyr649=
NM_001126131.2:c.1945T=	NP_001119603.1:p.Tyr649=
NM_002693.3:c.1945T= MANE Select	NP_002684.1:p.Tyr649=