Canonical Allele Identifier: CA393756638

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323412G>A , CM000677.2:g.89323412G>A	GRCh38
NC_000015.9:g.89866643G>A , CM000677.1:g.89866643G>A	GRCh37
NC_000015.8:g.87667647G>A	NCBI36
NG_008218.1:g.16384C>T
NG_008218.2:g.16384C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2257C>T MANE Select	NP_002684.1:p.Pro753Ser
ENST00000268124.11:c.2257C>T MANE Select	ENSP00000268124.5:p.Pro753Ser
NM_001126131.1:c.2257C>T	NP_001119603.1:p.Pro753Ser
NM_001126131.2:c.2257C>T	NP_001119603.1:p.Pro753Ser
NM_002693.2:c.2257C>T	NP_002684.1:p.Pro753Ser
ENST00000268124.9:c.2257C>T	ENSP00000268124.5:p.Pro753Ser
ENST00000442287.6:c.2257C>T	ENSP00000399851.2:p.Pro753Ser
ENST00000526314.2:c.539+403C>T
ENST00000526398.1:c.406C>T
ENST00000528881.2:c.26C>T
ENST00000530292.3:c.1858C>T	ENSP00000432885.2:p.Pro620Ser
ENST00000530715.5:c.16C>T	ENSP00000431395.1:p.Pro6Ser
ENST00000532584.5:n.459C>T
ENST00000631044.2:c.*1681C>T	ENSP00000486730.1:n.*1681C>T
ENST00000635986.2:c.2257C>T	ENSP00000490653.2:p.Pro753Ser
ENST00000636774.1:c.*824C>T	ENSP00000489799.1:n.*824C>T
ENST00000636937.2:c.2257C>T	ENSP00000516154.1:p.Pro753Ser
ENST00000637238.1:c.954C>T	ENSP00000490756.1:n.954C>T
ENST00000637264.1:c.1329C>T
ENST00000666746.1:c.1834C>T
ENST00000670281.1:c.577C>T	ENSP00000499709.1:p.Pro193Ser
ENST00000672071.1:n.2455C>T
ENST00000672923.2:n.2360C>T