Canonical Allele Identifier: CA393765908
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89329068C>A , CM000677.2:g.89329068C>A GRCh38
NC_000015.9:g.89872299C>A , CM000677.1:g.89872299C>A GRCh37
NC_000015.8:g.87673303C>A NCBI36
NG_008218.1:g.10728G>T
NG_008218.2:g.10728G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.898G>T ENSP00000516154.1:p.Ala300Ser
ENST00000268124.11:c.898G>T MANE Select ENSP00000268124.5:p.Ala300Ser
ENST00000530292.3:c.499G>T ENSP00000432885.2:p.Ala167Ser
ENST00000635986.2:c.898G>T ENSP00000490653.2:p.Ala300Ser
ENST00000636774.1:c.898G>T ENSP00000489799.1:p.Ala300Ser
ENST00000666746.1:c.555G>T
ENST00000672071.1:n.1096G>T
ENST00000268124.9:c.898G>T ENSP00000268124.5:p.Ala300Ser
ENST00000442287.6:c.898G>T ENSP00000399851.2:p.Ala300Ser
ENST00000631044.2:c.*281G>T ENSP00000486730.1:n.*281G>T
NM_001126131.1:c.898G>T NP_001119603.1:p.Ala300Ser
NM_002693.2:c.898G>T NP_002684.1:p.Ala300Ser
NM_001126131.2:c.898G>T NP_001119603.1:p.Ala300Ser
NM_002693.3:c.898G>T MANE Select NP_002684.1:p.Ala300Ser