Canonical Allele Identifier: CA393767018
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89330199G>T , CM000677.2:g.89330199G>T GRCh38
NC_000015.9:g.89873430G>T , CM000677.1:g.89873430G>T GRCh37
NC_000015.8:g.87674434G>T NCBI36
NG_008218.1:g.9597C>A
NG_008218.2:g.9597C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.737C>A ENSP00000516154.1:p.Pro246His
ENST00000268124.11:c.737C>A MANE Select ENSP00000268124.5:p.Pro246His
ENST00000530292.3:c.338C>A ENSP00000432885.2:p.Pro113His
ENST00000635986.2:c.737C>A ENSP00000490653.2:p.Pro246His
ENST00000636774.1:c.737C>A ENSP00000489799.1:p.Pro246His
ENST00000666746.1:c.394C>A
ENST00000672071.1:n.935C>A
ENST00000268124.9:c.737C>A ENSP00000268124.5:p.Pro246His
ENST00000442287.6:c.737C>A ENSP00000399851.2:p.Pro246His
ENST00000631044.2:c.*120C>A ENSP00000486730.1:n.*120C>A
NM_001126131.1:c.737C>A NP_001119603.1:p.Pro246His
NM_002693.2:c.737C>A NP_002684.1:p.Pro246His
NM_001126131.2:c.737C>A NP_001119603.1:p.Pro246His
NM_002693.3:c.737C>A MANE Select NP_002684.1:p.Pro246His