Canonical Allele Identifier: CA7724585

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323851G>A , CM000677.2:g.89323851G>A	GRCh38
NC_000015.9:g.89867082G>A , CM000677.1:g.89867082G>A	GRCh37
NC_000015.8:g.87668086G>A	NCBI36
NG_008218.1:g.15945C>T
NG_008218.2:g.15945C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2121C>T MANE Select	NP_002684.1:p.Asn707=
ENST00000268124.11:c.2121C>T MANE Select	ENSP00000268124.5:p.Asn707=
NM_001126131.1:c.2121C>T	NP_001119603.1:p.Asn707=
NM_001126131.2:c.2121C>T	NP_001119603.1:p.Asn707=
NM_002693.2:c.2121C>T	NP_002684.1:p.Asn707=
ENST00000268124.9:c.2121C>T	ENSP00000268124.5:p.Asn707=
ENST00000442287.6:c.2121C>T	ENSP00000399851.2:p.Asn707=
ENST00000526314.2:c.503C>T
ENST00000526398.1:c.270C>T
ENST00000526573.1:n.207C>T
ENST00000530292.3:c.1722C>T	ENSP00000432885.2:p.Asn574=
ENST00000532584.5:n.323C>T
ENST00000533857.1:n.236C>T
ENST00000631044.2:c.*1504C>T	ENSP00000486730.1:n.*1504C>T
ENST00000635986.2:c.2121C>T	ENSP00000490653.2:p.Asn707=
ENST00000636774.1:c.*688C>T	ENSP00000489799.1:n.*688C>T
ENST00000636937.2:c.2121C>T	ENSP00000516154.1:p.Asn707=
ENST00000637238.1:c.818C>T	ENSP00000490756.1:n.818C>T
ENST00000637264.1:c.1193C>T
ENST00000666746.1:c.1698C>T
ENST00000670281.1:c.441C>T	ENSP00000499709.1:p.Asn147=
ENST00000672071.1:n.2319C>T
ENST00000672923.2:n.2224C>T