Canonical Allele Identifier: CA393759499

Gene: POLG

Linked Data

• gnomAD v4: 15-89325680-G-T
• MyVariant Identifiers: chr15:g.89868911G>T (hg19) ; chr15:g.89325680G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325680G>T , CM000677.2:g.89325680G>T	GRCh38
NC_000015.9:g.89868911G>T , CM000677.1:g.89868911G>T	GRCh37
NC_000015.8:g.87669915G>T	NCBI36
NG_008218.1:g.14116C>A
NG_008218.2:g.14116C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1719C>A	ENSP00000516154.1:p.Tyr573Ter
ENST00000268124.11:c.1719C>A MANE Select	ENSP00000268124.5:p.Tyr573Ter
ENST00000530292.3:c.1320C>A	ENSP00000432885.2:p.Tyr440Ter
ENST00000635986.2:c.1719C>A	ENSP00000490653.2:p.Tyr573Ter
ENST00000636774.1:c.*286C>A	ENSP00000489799.1:n.*286C>A
ENST00000637238.1:c.456C>A	ENSP00000490756.1:p.Tyr152Ter
ENST00000637264.1:c.791C>A
ENST00000666746.1:c.1296C>A
ENST00000670281.1:c.39C>A	ENSP00000499709.1:p.Tyr13Ter
ENST00000672071.1:n.1917C>A
ENST00000672923.2:n.1822C>A
ENST00000268124.9:c.1719C>A	ENSP00000268124.5:p.Tyr573Ter
ENST00000442287.6:c.1719C>A	ENSP00000399851.2:p.Tyr573Ter
ENST00000526314.2:c.101C>A
ENST00000631044.2:c.*1102C>A	ENSP00000486730.1:n.*1102C>A
NM_001126131.1:c.1719C>A	NP_001119603.1:p.Tyr573Ter
NM_002693.2:c.1719C>A	NP_002684.1:p.Tyr573Ter
NM_001126131.2:c.1719C>A	NP_001119603.1:p.Tyr573Ter
NM_002693.3:c.1719C>A MANE Select	NP_002684.1:p.Tyr573Ter