Canonical Allele Identifier: CA393756709
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323442C>T , CM000677.2:g.89323442C>T GRCh38
NC_000015.9:g.89866673C>T , CM000677.1:g.89866673C>T GRCh37
NC_000015.8:g.87667677C>T NCBI36
NG_008218.1:g.16354G>A
NG_008218.2:g.16354G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.2227G>A ENSP00000516154.1:p.Asp743Asn
ENST00000268124.11:c.2227G>A MANE Select ENSP00000268124.5:p.Asp743Asn
ENST00000530292.3:c.1828G>A ENSP00000432885.2:p.Asp610Asn
ENST00000635986.2:c.2227G>A ENSP00000490653.2:p.Asp743Asn
ENST00000636774.1:c.*794G>A ENSP00000489799.1:n.*794G>A
ENST00000637238.1:c.924G>A ENSP00000490756.1:n.924G>A
ENST00000637264.1:c.1299G>A
ENST00000666746.1:c.1804G>A
ENST00000670281.1:c.547G>A ENSP00000499709.1:p.Asp183Asn
ENST00000672071.1:n.2425G>A
ENST00000672923.2:n.2330G>A
ENST00000268124.9:c.2227G>A ENSP00000268124.5:p.Asp743Asn
ENST00000442287.6:c.2227G>A ENSP00000399851.2:p.Asp743Asn
ENST00000526314.2:c.539+373G>A
ENST00000526398.1:c.376G>A
ENST00000532584.5:n.429G>A
ENST00000631044.2:c.*1651G>A ENSP00000486730.1:n.*1651G>A
NM_001126131.1:c.2227G>A NP_001119603.1:p.Asp743Asn
NM_002693.2:c.2227G>A NP_002684.1:p.Asp743Asn
NM_001126131.2:c.2227G>A NP_001119603.1:p.Asp743Asn
NM_002693.3:c.2227G>A MANE Select NP_002684.1:p.Asp743Asn