Canonical Allele Identifier: CA2194542074
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318699G= , CM000677.2:g.89318699G= GRCh38
NC_000015.9:g.89861930G= , CM000677.1:g.89861930G= GRCh37
NC_000015.8:g.87662934G= NCBI36
NG_008218.1:g.21097C=
NG_011736.1:g.79737G= , LRG_500:g.79737G=
NG_008218.2:g.21097C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3324C= ENSP00000516154.1:p.Tyr1108=
ENST00000268124.11:c.3324C= MANE Select ENSP00000268124.5:p.Tyr1108=
ENST00000530292.3:c.2925C= ENSP00000432885.2:p.Tyr975=
ENST00000635986.2:c.*394C= ENSP00000490653.2:n.*394C=
ENST00000636774.1:c.*1891C= ENSP00000489799.1:n.*1891C=
ENST00000637238.1:c.2133C= ENSP00000490756.1:n.2133C=
ENST00000637264.1:c.2396C=
ENST00000666746.1:c.2901C=
ENST00000672071.1:n.3522C=
ENST00000672695.1:n.501C=
ENST00000672923.2:n.3324C=
ENST00000268124.9:c.3324C= ENSP00000268124.5:p.Tyr1108=
ENST00000442287.6:c.3324C= ENSP00000399851.2:p.Tyr1108=
ENST00000530292.2:c.408C= ENSP00000432885.1:p.Tyr136=
ENST00000631044.2:c.*2748C= ENSP00000486730.1:n.*2748C=
NM_001126131.1:c.3324C= NP_001119603.1:p.Tyr1108=
NM_002693.2:c.3324C= NP_002684.1:p.Tyr1108=
NM_001126131.2:c.3324C= NP_001119603.1:p.Tyr1108=
NM_002693.3:c.3324C= MANE Select NP_002684.1:p.Tyr1108=