Canonical Allele Identifier: CA393761626
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89327191G>T , CM000677.2:g.89327191G>T GRCh38
NC_000015.9:g.89870422G>T , CM000677.1:g.89870422G>T GRCh37
NC_000015.8:g.87671426G>T NCBI36
NG_008218.1:g.12605C>A
NG_008218.2:g.12605C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1409C>A ENSP00000516154.1:p.Ala470Asp
ENST00000268124.11:c.1409C>A MANE Select ENSP00000268124.5:p.Ala470Asp
ENST00000530292.3:c.1010C>A ENSP00000432885.2:p.Ala337Asp
ENST00000635986.2:c.1409C>A ENSP00000490653.2:p.Ala470Asp
ENST00000636774.1:c.1409C>A ENSP00000489799.1:p.Ala470Asp
ENST00000637238.1:c.146C>A ENSP00000490756.1:p.Ala49Asp
ENST00000637264.1:c.481C>A
ENST00000666746.1:c.986C>A
ENST00000672071.1:n.1607C>A
ENST00000672923.2:n.1512C>A
ENST00000268124.9:c.1409C>A ENSP00000268124.5:p.Ala470Asp
ENST00000442287.6:c.1409C>A ENSP00000399851.2:p.Ala470Asp
ENST00000532363.2:n.267C>A
ENST00000631044.2:c.*792C>A ENSP00000486730.1:n.*792C>A
NM_001126131.1:c.1409C>A NP_001119603.1:p.Ala470Asp
NM_002693.2:c.1409C>A NP_002684.1:p.Ala470Asp
NM_001126131.2:c.1409C>A NP_001119603.1:p.Ala470Asp
NM_002693.3:c.1409C>A MANE Select NP_002684.1:p.Ala470Asp