Canonical Allele Identifier: CA274556057

Gene: POLG

Linked Data

• dbSNP Id: rs995016923
• gnomAD v2: 15-89870152-C-A
• MyVariant Identifiers: chr15:g.89870152C>A (hg19) ; chr15:g.89326921C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89326921C>A , CM000677.2:g.89326921C>A	GRCh38
NC_000015.9:g.89870152C>A , CM000677.1:g.89870152C>A	GRCh37
NC_000015.8:g.87671156C>A	NCBI36
NG_008218.1:g.12875G>T
NG_008218.2:g.12875G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1576G>T	ENSP00000516154.1:p.Asp526Tyr
ENST00000268124.11:c.1576G>T MANE Select	ENSP00000268124.5:p.Asp526Tyr
ENST00000530292.3:c.1177G>T	ENSP00000432885.2:p.Asp393Tyr
ENST00000635986.2:c.1576G>T	ENSP00000490653.2:p.Asp526Tyr
ENST00000636774.1:c.*143G>T	ENSP00000489799.1:n.*143G>T
ENST00000637238.1:c.313G>T	ENSP00000490756.1:p.Asp105Tyr
ENST00000637264.1:c.648G>T
ENST00000666746.1:c.1153G>T
ENST00000672071.1:n.1774G>T
ENST00000672923.2:n.1679G>T
ENST00000268124.9:c.1576G>T	ENSP00000268124.5:p.Asp526Tyr
ENST00000442287.6:c.1576G>T	ENSP00000399851.2:p.Asp526Tyr
ENST00000631044.2:c.*959G>T	ENSP00000486730.1:n.*959G>T
NM_001126131.1:c.1576G>T	NP_001119603.1:p.Asp526Tyr
NM_002693.2:c.1576G>T	NP_002684.1:p.Asp526Tyr
NM_001126131.2:c.1576G>T	NP_001119603.1:p.Asp526Tyr
NM_002693.3:c.1576G>T MANE Select	NP_002684.1:p.Asp526Tyr