Canonical Allele Identifier: CA393766567

Gene: POLG

Linked Data

• dbSNP Id: rs1201281408
• gnomAD v2: 15-89873325-T-C
• gnomAD v4: 15-89330094-T-C
• MyVariant Identifiers: chr15:g.89873325T>C (hg19) ; chr15:g.89330094T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330094T>C , CM000677.2:g.89330094T>C	GRCh38
NC_000015.9:g.89873325T>C , CM000677.1:g.89873325T>C	GRCh37
NC_000015.8:g.87674329T>C	NCBI36
NG_008218.1:g.9702A>G
NG_008218.2:g.9702A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.842A>G	ENSP00000516154.1:p.Gln281Arg
ENST00000268124.11:c.842A>G MANE Select	ENSP00000268124.5:p.Gln281Arg
ENST00000530292.3:c.443A>G	ENSP00000432885.2:p.Gln148Arg
ENST00000635986.2:c.842A>G	ENSP00000490653.2:p.Gln281Arg
ENST00000636774.1:c.842A>G	ENSP00000489799.1:p.Gln281Arg
ENST00000666746.1:c.499A>G
ENST00000672071.1:n.1040A>G
ENST00000268124.9:c.842A>G	ENSP00000268124.5:p.Gln281Arg
ENST00000442287.6:c.842A>G	ENSP00000399851.2:p.Gln281Arg
ENST00000631044.2:c.*225A>G	ENSP00000486730.1:n.*225A>G
NM_001126131.1:c.842A>G	NP_001119603.1:p.Gln281Arg
NM_002693.2:c.842A>G	NP_002684.1:p.Gln281Arg
NM_001126131.2:c.842A>G	NP_001119603.1:p.Gln281Arg
NM_002693.3:c.842A>G MANE Select	NP_002684.1:p.Gln281Arg