Canonical Allele Identifier: CA2630256116
Community Standard Title: NM_002693.3(POLG):c.1250+144G>T
Gene: POLG HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89328312C>A , CM000677.2:g.89328312C>A GRCh38
NC_000015.9:g.89871543C>A , CM000677.1:g.89871543C>A GRCh37
NC_000015.8:g.87672547C>A NCBI36
NG_008218.1:g.11484G>T
NG_008218.2:g.11484G>T

Transcript Alleles

HGVS Amino-acid Change
NM_002693.3:c.1250+144G>T MANE Select NP_002684.1:n.1250+144G>T
ENST00000268124.11:c.1250+144G>T MANE Select ENSP00000268124.5:n.1250+144G>T
NM_001126131.1:c.1250+144G>T NP_001119603.1:n.1250+144G>T
NM_001126131.2:c.1250+144G>T NP_001119603.1:n.1250+144G>T
NM_002693.2:c.1250+144G>T NP_002684.1:n.1250+144G>T
ENST00000268124.9:c.1250+144G>T ENSP00000268124.5:n.1250+144G>T
ENST00000442287.6:c.1250+144G>T ENSP00000399851.2:n.1250+144G>T
ENST00000530292.3:c.851+144G>T ENSP00000432885.2:n.851+144G>T
ENST00000532363.2:n.108+144G>T
ENST00000631044.2:c.*633+144G>T ENSP00000486730.1:n.*633+144G>T
ENST00000635986.2:c.1250+144G>T ENSP00000490653.2:n.1250+144G>T
ENST00000636774.1:c.1250+144G>T ENSP00000489799.1:n.1250+144G>T
ENST00000636937.2:c.1250+144G>T ENSP00000516154.1:n.1250+144G>T
ENST00000637264.1:c.322+144G>T
ENST00000666746.1:c.827+373G>T
ENST00000672071.1:n.1448+144G>T
ENST00000672923.2:n.391G>T
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