Canonical Allele Identifier: CA7724273

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319320C>A , CM000677.2:g.89319320C>A	GRCh38
NC_000015.9:g.89862551C>A , CM000677.1:g.89862551C>A	GRCh37
NC_000015.8:g.87663555C>A	NCBI36
NG_008218.1:g.20476G>T
NG_008218.2:g.20476G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.3012G>T MANE Select	NP_002684.1:p.Leu1004=
ENST00000268124.11:c.3012G>T MANE Select	ENSP00000268124.5:p.Leu1004=
NM_001126131.1:c.3012G>T	NP_001119603.1:p.Leu1004=
NM_001126131.2:c.3012G>T	NP_001119603.1:p.Leu1004=
NM_002693.2:c.3012G>T	NP_002684.1:p.Leu1004=
ENST00000268124.9:c.3012G>T	ENSP00000268124.5:p.Leu1004=
ENST00000442287.6:c.3012G>T	ENSP00000399851.2:p.Leu1004=
ENST00000530292.2:c.96G>T	ENSP00000432885.1:p.Leu32=
ENST00000530292.3:c.2613G>T	ENSP00000432885.2:p.Leu871=
ENST00000530715.5:c.320G>T	ENSP00000431395.1:n.320G>T
ENST00000631044.2:c.*2436G>T	ENSP00000486730.1:n.*2436G>T
ENST00000635986.2:c.*82G>T	ENSP00000490653.2:n.*82G>T
ENST00000636530.1:n.29+31G>T
ENST00000636774.1:c.*1579G>T	ENSP00000489799.1:n.*1579G>T
ENST00000636937.2:c.3012G>T	ENSP00000516154.1:p.Leu1004=
ENST00000637238.1:c.1821G>T	ENSP00000490756.1:n.1821G>T
ENST00000637264.1:c.2084G>T
ENST00000666746.1:c.2589G>T
ENST00000670281.1:c.831G>T	ENSP00000499709.1:p.Leu277=
ENST00000672071.1:n.3210G>T
ENST00000672695.1:n.189G>T
ENST00000672923.2:n.3012G>T