Canonical Allele Identifier: CA7724659

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325463C>A , CM000677.2:g.89325463C>A	GRCh38
NC_000015.9:g.89868694C>A , CM000677.1:g.89868694C>A	GRCh37
NC_000015.8:g.87669698C>A	NCBI36
NG_008218.1:g.14333G>T
NG_008218.2:g.14333G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.1936G>T MANE Select	NP_002684.1:p.Val646Phe
ENST00000268124.11:c.1936G>T MANE Select	ENSP00000268124.5:p.Val646Phe
NM_001126131.1:c.1936G>T	NP_001119603.1:p.Val646Phe
NM_001126131.2:c.1936G>T	NP_001119603.1:p.Val646Phe
NM_002693.2:c.1936G>T	NP_002684.1:p.Val646Phe
ENST00000268124.9:c.1936G>T	ENSP00000268124.5:p.Val646Phe
ENST00000442287.6:c.1936G>T	ENSP00000399851.2:p.Val646Phe
ENST00000526314.2:c.318G>T
ENST00000526398.1:c.125G>T
ENST00000526573.1:n.22G>T
ENST00000530292.3:c.1537G>T	ENSP00000432885.2:p.Val513Phe
ENST00000532584.5:n.138G>T
ENST00000631044.2:c.*1319G>T	ENSP00000486730.1:n.*1319G>T
ENST00000635986.2:c.1936G>T	ENSP00000490653.2:p.Val646Phe
ENST00000636774.1:c.*503G>T	ENSP00000489799.1:n.*503G>T
ENST00000636937.2:c.1936G>T	ENSP00000516154.1:p.Val646Phe
ENST00000637238.1:c.646+27G>T	ENSP00000490756.1:n.646+27G>T
ENST00000637264.1:c.1008G>T
ENST00000666746.1:c.1513G>T
ENST00000670281.1:c.256G>T	ENSP00000499709.1:p.Val86Phe
ENST00000672071.1:n.2134G>T
ENST00000672923.2:n.2039G>T