Canonical Allele Identifier: CA3216019233
Community Standard Title: NM_002693.3(POLG):c.1250+164A=
Gene: POLG HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89328292T= , CM000677.2:g.89328292T= GRCh38
NC_000015.9:g.89871523T= , CM000677.1:g.89871523T= GRCh37
NC_000015.8:g.87672527T= NCBI36
NG_008218.1:g.11504A=
NG_008218.2:g.11504A=

Transcript Alleles

HGVS Amino-acid Change
NM_002693.3:c.1250+164A= MANE Select NP_002684.1:n.1250+164A=
ENST00000268124.11:c.1250+164A= MANE Select ENSP00000268124.5:n.1250+164A=
NM_001126131.1:c.1250+164A= NP_001119603.1:n.1250+164A=
NM_001126131.2:c.1250+164A= NP_001119603.1:n.1250+164A=
NM_002693.2:c.1250+164A= NP_002684.1:n.1250+164A=
ENST00000268124.9:c.1250+164A= ENSP00000268124.5:n.1250+164A=
ENST00000442287.6:c.1250+164A= ENSP00000399851.2:n.1250+164A=
ENST00000530292.3:c.851+164A= ENSP00000432885.2:n.851+164A=
ENST00000532363.2:n.108+164A=
ENST00000631044.2:c.*633+164A= ENSP00000486730.1:n.*633+164A=
ENST00000635986.2:c.1250+164A= ENSP00000490653.2:n.1250+164A=
ENST00000636774.1:c.1250+164A= ENSP00000489799.1:n.1250+164A=
ENST00000636937.2:c.1250+164A= ENSP00000516154.1:n.1250+164A=
ENST00000637264.1:c.322+164A=
ENST00000666746.1:c.827+393A=
ENST00000672071.1:n.1448+164A=
ENST00000672923.2:n.411A=
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