Canonical Allele Identifier: CA2194560654
Community Standard Title: NM_002693.3(POLG):c.1250+174T=
Gene: POLG HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89328282A= , CM000677.2:g.89328282A= GRCh38
NC_000015.9:g.89871513A= , CM000677.1:g.89871513A= GRCh37
NC_000015.8:g.87672517A= NCBI36
NG_008218.1:g.11514T=
NG_008218.2:g.11514T=

Transcript Alleles

HGVS Amino-acid Change
NM_002693.3:c.1250+174T= MANE Select NP_002684.1:n.1250+174T=
ENST00000268124.11:c.1250+174T= MANE Select ENSP00000268124.5:n.1250+174T=
NM_001126131.1:c.1250+174T= NP_001119603.1:n.1250+174T=
NM_001126131.2:c.1250+174T= NP_001119603.1:n.1250+174T=
NM_002693.2:c.1250+174T= NP_002684.1:n.1250+174T=
ENST00000268124.9:c.1250+174T= ENSP00000268124.5:n.1250+174T=
ENST00000442287.6:c.1250+174T= ENSP00000399851.2:n.1250+174T=
ENST00000530292.3:c.851+174T= ENSP00000432885.2:n.851+174T=
ENST00000532363.2:n.108+174T=
ENST00000631044.2:c.*633+174T= ENSP00000486730.1:n.*633+174T=
ENST00000635986.2:c.1250+174T= ENSP00000490653.2:n.1250+174T=
ENST00000636774.1:c.1250+174T= ENSP00000489799.1:n.1250+174T=
ENST00000636937.2:c.1250+174T= ENSP00000516154.1:n.1250+174T=
ENST00000637264.1:c.322+174T=
ENST00000666746.1:c.827+403T=
ENST00000672071.1:n.1448+174T=
ENST00000672923.2:n.421T=
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