Canonical Allele Identifier: CA2194547829
Community Standard Title: NM_002693.3(POLG):c.2864A= (p.Tyr955=)
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89320883T= , CM000677.2:g.89320883T= GRCh38
NC_000015.9:g.89864114T= , CM000677.1:g.89864114T= GRCh37
NC_000015.8:g.87665118T= NCBI36
NG_008218.1:g.18913A=
NG_008218.2:g.18913A=

Transcript Alleles

HGVS Amino-acid Change
NM_002693.3:c.2864A= MANE Select NP_002684.1:p.Tyr955=
ENST00000268124.11:c.2864A= MANE Select ENSP00000268124.5:p.Tyr955=
NM_001126131.1:c.2864A= NP_001119603.1:p.Tyr955=
NM_001126131.2:c.2864A= NP_001119603.1:p.Tyr955=
NM_002693.2:c.2864A= NP_002684.1:p.Tyr955=
ENST00000268124.9:c.2864A= ENSP00000268124.5:p.Tyr955=
ENST00000442287.6:c.2864A= ENSP00000399851.2:p.Tyr955=
ENST00000528881.2:c.461A=
ENST00000530292.3:c.2465A= ENSP00000432885.2:p.Tyr822=
ENST00000530715.5:c.186-14A= ENSP00000431395.1:n.186-14A=
ENST00000631044.2:c.*2288A= ENSP00000486730.1:n.*2288A=
ENST00000635986.2:c.2864A= ENSP00000490653.2:p.Tyr955=
ENST00000636774.1:c.*1431A= ENSP00000489799.1:n.*1431A=
ENST00000636937.2:c.2864A= ENSP00000516154.1:p.Tyr955=
ENST00000637238.1:c.1673A= ENSP00000490756.1:n.1673A=
ENST00000637264.1:c.1936A=
ENST00000666746.1:c.2441A=
ENST00000670281.1:c.800+1079A= ENSP00000499709.1:n.800+1079A=
ENST00000672071.1:n.3062A=
ENST00000672695.1:n.41A=
ENST00000672923.2:n.2806A=