Canonical Allele Identifier: CA393756785

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89866700G>A (hg19) ; chr15:g.89323469G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323469G>A , CM000677.2:g.89323469G>A	GRCh38
NC_000015.9:g.89866700G>A , CM000677.1:g.89866700G>A	GRCh37
NC_000015.8:g.87667704G>A	NCBI36
NG_008218.1:g.16327C>T
NG_008218.2:g.16327C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2200C>T	ENSP00000516154.1:p.His734Tyr
ENST00000268124.11:c.2200C>T MANE Select	ENSP00000268124.5:p.His734Tyr
ENST00000530292.3:c.1801C>T	ENSP00000432885.2:p.His601Tyr
ENST00000635986.2:c.2200C>T	ENSP00000490653.2:p.His734Tyr
ENST00000636774.1:c.*767C>T	ENSP00000489799.1:n.*767C>T
ENST00000637238.1:c.897C>T	ENSP00000490756.1:n.897C>T
ENST00000637264.1:c.1272C>T
ENST00000666746.1:c.1777C>T
ENST00000670281.1:c.520C>T	ENSP00000499709.1:p.His174Tyr
ENST00000672071.1:n.2398C>T
ENST00000672923.2:n.2303C>T
ENST00000268124.9:c.2200C>T	ENSP00000268124.5:p.His734Tyr
ENST00000442287.6:c.2200C>T	ENSP00000399851.2:p.His734Tyr
ENST00000526314.2:c.539+346C>T
ENST00000526398.1:c.349C>T
ENST00000532584.5:n.402C>T
ENST00000631044.2:c.*1624C>T	ENSP00000486730.1:n.*1624C>T
NM_001126131.1:c.2200C>T	NP_001119603.1:p.His734Tyr
NM_002693.2:c.2200C>T	NP_002684.1:p.His734Tyr
NM_001126131.2:c.2200C>T	NP_001119603.1:p.His734Tyr
NM_002693.3:c.2200C>T MANE Select	NP_002684.1:p.His734Tyr