Canonical Allele Identifier: CA492080166

Gene: POLG

Linked Data

• gnomAD v4: 15-89330117-A-G
• MyVariant Identifiers: chr15:g.89873348A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330117A>G , CM000677.2:g.89330117A>G	GRCh38
NC_000015.9:g.89873348A>G , CM000677.1:g.89873348A>G	GRCh37
NC_000015.8:g.87674352A>G	NCBI36
NG_008218.1:g.9679T>C
NG_008218.2:g.9679T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.819T>C	ENSP00000516154.1:p.Phe273=
ENST00000268124.11:c.819T>C MANE Select	ENSP00000268124.5:p.Phe273=
ENST00000530292.3:c.420T>C	ENSP00000432885.2:p.Phe140=
ENST00000635986.2:c.819T>C	ENSP00000490653.2:p.Phe273=
ENST00000636774.1:c.819T>C	ENSP00000489799.1:p.Phe273=
ENST00000666746.1:c.476T>C
ENST00000672071.1:n.1017T>C
ENST00000268124.9:c.819T>C	ENSP00000268124.5:p.Phe273=
ENST00000442287.6:c.819T>C	ENSP00000399851.2:p.Phe273=
ENST00000631044.2:c.*202T>C	ENSP00000486730.1:n.*202T>C
NM_001126131.1:c.819T>C	NP_001119603.1:p.Phe273=
NM_002693.2:c.819T>C	NP_002684.1:p.Phe273=
NM_001126131.2:c.819T>C	NP_001119603.1:p.Phe273=
NM_002693.3:c.819T>C MANE Select	NP_002684.1:p.Phe273=