Canonical Allele Identifier: CA393758895

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325452G>T , CM000677.2:g.89325452G>T	GRCh38
NC_000015.9:g.89868683G>T , CM000677.1:g.89868683G>T	GRCh37
NC_000015.8:g.87669687G>T	NCBI36
NG_008218.1:g.14344C>A
NG_008218.2:g.14344C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.1947C>A MANE Select	NP_002684.1:p.Tyr649Ter
ENST00000268124.11:c.1947C>A MANE Select	ENSP00000268124.5:p.Tyr649Ter
NM_001126131.1:c.1947C>A	NP_001119603.1:p.Tyr649Ter
NM_001126131.2:c.1947C>A	NP_001119603.1:p.Tyr649Ter
NM_002693.2:c.1947C>A	NP_002684.1:p.Tyr649Ter
ENST00000268124.9:c.1947C>A	ENSP00000268124.5:p.Tyr649Ter
ENST00000442287.6:c.1947C>A	ENSP00000399851.2:p.Tyr649Ter
ENST00000526314.2:c.329C>A
ENST00000526398.1:c.136C>A
ENST00000526573.1:n.33C>A
ENST00000530292.3:c.1548C>A	ENSP00000432885.2:p.Tyr516Ter
ENST00000532584.5:n.149C>A
ENST00000631044.2:c.*1330C>A	ENSP00000486730.1:n.*1330C>A
ENST00000635986.2:c.1947C>A	ENSP00000490653.2:p.Tyr649Ter
ENST00000636774.1:c.*514C>A	ENSP00000489799.1:n.*514C>A
ENST00000636937.2:c.1947C>A	ENSP00000516154.1:p.Tyr649Ter
ENST00000637238.1:c.646+38C>A	ENSP00000490756.1:n.646+38C>A
ENST00000637264.1:c.1019C>A
ENST00000666746.1:c.1524C>A
ENST00000670281.1:c.267C>A	ENSP00000499709.1:p.Tyr89Ter
ENST00000672071.1:n.2145C>A
ENST00000672923.2:n.2050C>A