Canonical Allele Identifier: CA393760685
Community Standard Title: NM_002693.3(POLG):c.1586-1G>A
Gene: POLG HGNC NCBI
MIR6766 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89326739C>T , CM000677.2:g.89326739C>T GRCh38
NC_000015.9:g.89869970C>T , CM000677.1:g.89869970C>T GRCh37
NC_000015.8:g.87670974C>T NCBI36
NG_008218.1:g.13057G>A
NG_008218.2:g.13057G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002693.3:c.1586-1G>A (POLG) MANE Select NP_002684.1:n.1586-1G>A
ENST00000268124.11:c.1586-1G>A (POLG) MANE Select ENSP00000268124.5:n.1586-1G>A
NM_001126131.1:c.1586-1G>A (POLG) NP_001119603.1:n.1586-1G>A
NM_001126131.2:c.1586-1G>A (POLG) NP_001119603.1:n.1586-1G>A
NM_002693.2:c.1586-1G>A (POLG) NP_002684.1:n.1586-1G>A
NR_106824.1:n.72G>A (MIR6766)
ENST00000268124.9:c.1586-1G>A (POLG) ENSP00000268124.5:n.1586-1G>A
ENST00000442287.6:c.1586-1G>A (POLG) ENSP00000399851.2:n.1586-1G>A
ENST00000530292.3:c.1187-1G>A (POLG) ENSP00000432885.2:n.1187-1G>A
ENST00000631044.2:c.*969-1G>A (POLG) ENSP00000486730.1:n.*969-1G>A
ENST00000635986.2:c.1586-1G>A (POLG) ENSP00000490653.2:n.1586-1G>A
ENST00000636774.1:c.*153-1G>A (POLG) ENSP00000489799.1:n.*153-1G>A
ENST00000636937.2:c.1586-1G>A (POLG) ENSP00000516154.1:n.1586-1G>A
ENST00000637238.1:c.323-1G>A (POLG) ENSP00000490756.1:n.323-1G>A
ENST00000637264.1:c.658-1G>A (POLG)
ENST00000666746.1:c.1163-1G>A (POLG)
ENST00000672071.1:n.1784-1G>A (POLG)
ENST00000672923.2:n.1689-1G>A (POLG)