Canonical Allele Identifier: CA393764908

Gene: POLG

Linked Data

• dbSNP Id: rs1340995594
• gnomAD v3: 15-89328759-C-G
• gnomAD v4: 15-89328759-C-G
• MyVariant Identifiers: chr15:g.89871990C>G (hg19) ; chr15:g.89328759C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328759C>G , CM000677.2:g.89328759C>G	GRCh38
NC_000015.9:g.89871990C>G , CM000677.1:g.89871990C>G	GRCh37
NC_000015.8:g.87672994C>G	NCBI36
NG_008218.1:g.11037G>C
NG_008218.2:g.11037G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1096G>C	ENSP00000516154.1:p.Gly366Arg
ENST00000268124.11:c.1096G>C MANE Select	ENSP00000268124.5:p.Gly366Arg
ENST00000530292.3:c.697G>C	ENSP00000432885.2:p.Gly233Arg
ENST00000635986.2:c.1096G>C	ENSP00000490653.2:p.Gly366Arg
ENST00000636774.1:c.1096G>C	ENSP00000489799.1:p.Gly366Arg
ENST00000637264.1:c.168G>C
ENST00000666746.1:c.753G>C
ENST00000672071.1:n.1294G>C
ENST00000672923.2:n.93G>C
ENST00000268124.9:c.1096G>C	ENSP00000268124.5:p.Gly366Arg
ENST00000442287.6:c.1096G>C	ENSP00000399851.2:p.Gly366Arg
ENST00000631044.2:c.*479G>C	ENSP00000486730.1:n.*479G>C
NM_001126131.1:c.1096G>C	NP_001119603.1:p.Gly366Arg
NM_002693.2:c.1096G>C	NP_002684.1:p.Gly366Arg
NM_001126131.2:c.1096G>C	NP_001119603.1:p.Gly366Arg
NM_002693.3:c.1096G>C MANE Select	NP_002684.1:p.Gly366Arg