Canonical Allele Identifier: CA274557860
Community Standard Title: NM_002693.3(POLG):c.1250+178A>C
Gene: POLG HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89328278T>G , CM000677.2:g.89328278T>G GRCh38
NC_000015.9:g.89871509T>G , CM000677.1:g.89871509T>G GRCh37
NC_000015.8:g.87672513T>G NCBI36
NG_008218.1:g.11518A>C
NG_008218.2:g.11518A>C

Transcript Alleles

HGVS Amino-acid Change
NM_002693.3:c.1250+178A>C MANE Select NP_002684.1:n.1250+178A>C
ENST00000268124.11:c.1250+178A>C MANE Select ENSP00000268124.5:n.1250+178A>C
NM_001126131.1:c.1250+178A>C NP_001119603.1:n.1250+178A>C
NM_001126131.2:c.1250+178A>C NP_001119603.1:n.1250+178A>C
NM_002693.2:c.1250+178A>C NP_002684.1:n.1250+178A>C
ENST00000268124.9:c.1250+178A>C ENSP00000268124.5:n.1250+178A>C
ENST00000442287.6:c.1250+178A>C ENSP00000399851.2:n.1250+178A>C
ENST00000530292.3:c.851+178A>C ENSP00000432885.2:n.851+178A>C
ENST00000532363.2:n.108+178A>C
ENST00000631044.2:c.*633+178A>C ENSP00000486730.1:n.*633+178A>C
ENST00000635986.2:c.1250+178A>C ENSP00000490653.2:n.1250+178A>C
ENST00000636774.1:c.1250+178A>C ENSP00000489799.1:n.1250+178A>C
ENST00000636937.2:c.1250+178A>C ENSP00000516154.1:n.1250+178A>C
ENST00000637264.1:c.322+178A>C
ENST00000666746.1:c.827+407A>C
ENST00000672071.1:n.1448+178A>C
ENST00000672923.2:n.425A>C
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