Canonical Allele Identifier: CA393749737

Gene: POLG

Linked Data

• gnomAD v4: 15-89318588-G-T
• MyVariant Identifiers: chr15:g.89861819G>T (hg19) ; chr15:g.89318588G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318588G>T , CM000677.2:g.89318588G>T	GRCh38
NC_000015.9:g.89861819G>T , CM000677.1:g.89861819G>T	GRCh37
NC_000015.8:g.87662823G>T	NCBI36
NG_008218.1:g.21208C>A
NG_011736.1:g.79626G>T , LRG_500:g.79626G>T
NG_008218.2:g.21208C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3435C>A	ENSP00000516154.1:p.Asp1145Glu
ENST00000268124.11:c.3435C>A MANE Select	ENSP00000268124.5:p.Asp1145Glu
ENST00000530292.3:c.3036C>A	ENSP00000432885.2:p.Asp1012Glu
ENST00000635986.2:c.*505C>A	ENSP00000490653.2:n.*505C>A
ENST00000636774.1:c.*2002C>A	ENSP00000489799.1:n.*2002C>A
ENST00000637238.1:c.2244C>A	ENSP00000490756.1:n.2244C>A
ENST00000637264.1:c.2507C>A
ENST00000666746.1:c.3012C>A
ENST00000672071.1:n.3633C>A
ENST00000672695.1:n.612C>A
ENST00000672923.2:n.3435C>A
ENST00000268124.9:c.3435C>A	ENSP00000268124.5:p.Asp1145Glu
ENST00000442287.6:c.3435C>A	ENSP00000399851.2:p.Asp1145Glu
ENST00000530292.2:c.519C>A	ENSP00000432885.1:p.Asp173Glu
ENST00000631044.2:c.*2859C>A	ENSP00000486730.1:n.*2859C>A
NM_001126131.1:c.3435C>A	NP_001119603.1:p.Asp1145Glu
NM_002693.2:c.3435C>A	NP_002684.1:p.Asp1145Glu
NM_001126131.2:c.3435C>A	NP_001119603.1:p.Asp1145Glu
NM_002693.3:c.3435C>A MANE Select	NP_002684.1:p.Asp1145Glu