Canonical Allele Identifier: CA2194569330
Community Standard Title: NM_002693.3(POLG):c.659+998T=
Gene: POLG HGNC NCBI
POLGARF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89332098A= , CM000677.2:g.89332098A= GRCh38
NC_000015.9:g.89875329A= , CM000677.1:g.89875329A= GRCh37
NC_000015.8:g.87676333A= NCBI36
NG_008218.1:g.7698T=
NG_008218.2:g.7698T=

Transcript Alleles

HGVS Amino-acid Change
NM_002693.3:c.659+998T= (POLG) MANE Select NP_002684.1:n.659+998T=
ENST00000268124.11:c.659+998T= (POLG) MANE Select ENSP00000268124.5:n.659+998T=
NM_001126131.1:c.659+998T= (POLG) NP_001119603.1:n.659+998T=
NM_001126131.2:c.659+998T= (POLG) NP_001119603.1:n.659+998T=
NM_002693.2:c.659+998T= (POLG) NP_002684.1:n.659+998T=
ENST00000268124.9:c.659+998T= (POLG) ENSP00000268124.5:n.659+998T=
ENST00000442287.6:c.659+998T= (POLG) ENSP00000399851.2:n.659+998T=
ENST00000530292.3:c.260+998T= (POLG) ENSP00000432885.2:n.260+998T=
ENST00000631044.2:c.*42+120T= (POLG) ENSP00000486730.1:n.*42+120T=
ENST00000635986.2:c.659+998T= (POLG) ENSP00000490653.2:n.659+998T=
ENST00000636774.1:c.659+998T= (POLG) ENSP00000489799.1:n.659+998T=
ENST00000636937.2:c.659+998T= (POLG) ENSP00000516154.1:n.659+998T=
ENST00000637307.1:c.49+998T= (POLG)
ENST00000650303.2:c.714+998T= (POLG) ENSP00000497242.2:n.714+998T=
ENST00000666746.1:c.316+998T= (POLG)
ENST00000672071.1:n.857+998T= (POLG)
ENST00000706918.1:c.714+998T= (POLGARF) ENSP00000516626.1:n.714+998T=