Canonical Allele Identifier: CA7724206

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318985C>T , CM000677.2:g.89318985C>T	GRCh38
NC_000015.9:g.89862216C>T , CM000677.1:g.89862216C>T	GRCh37
NC_000015.8:g.87663220C>T	NCBI36
NG_008218.1:g.20811G>A
NG_011736.1:g.80023C>T , LRG_500:g.80023C>T
NG_008218.2:g.20811G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.3219G>A MANE Select	NP_002684.1:p.Pro1073=
ENST00000268124.11:c.3219G>A MANE Select	ENSP00000268124.5:p.Pro1073=
NM_001126131.1:c.3219G>A	NP_001119603.1:p.Pro1073=
NM_001126131.2:c.3219G>A	NP_001119603.1:p.Pro1073=
NM_002693.2:c.3219G>A	NP_002684.1:p.Pro1073=
ENST00000268124.9:c.3219G>A	ENSP00000268124.5:p.Pro1073=
ENST00000442287.6:c.3219G>A	ENSP00000399851.2:p.Pro1073=
ENST00000530292.2:c.303G>A	ENSP00000432885.1:p.Pro101=
ENST00000530292.3:c.2820G>A	ENSP00000432885.2:p.Pro940=
ENST00000631044.2:c.*2643G>A	ENSP00000486730.1:n.*2643G>A
ENST00000635986.2:c.*289G>A	ENSP00000490653.2:n.*289G>A
ENST00000636774.1:c.*1786G>A	ENSP00000489799.1:n.*1786G>A
ENST00000636937.2:c.3219G>A	ENSP00000516154.1:p.Pro1073=
ENST00000637238.1:c.2028G>A	ENSP00000490756.1:n.2028G>A
ENST00000637264.1:c.2291G>A
ENST00000666746.1:c.2796G>A
ENST00000672071.1:n.3417G>A
ENST00000672695.1:n.396G>A
ENST00000672923.2:n.3219G>A