Canonical Allele Identifier: CA393765471

Gene: POLG

Linked Data

• dbSNP Id: rs1380309120
• gnomAD v2: 15-89872206-T-C
• gnomAD v4: 15-89328975-T-C
• MyVariant Identifiers: chr15:g.89872206T>C (hg19) ; chr15:g.89328975T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328975T>C , CM000677.2:g.89328975T>C	GRCh38
NC_000015.9:g.89872206T>C , CM000677.1:g.89872206T>C	GRCh37
NC_000015.8:g.87673210T>C	NCBI36
NG_008218.1:g.10821A>G
NG_008218.2:g.10821A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.991A>G	ENSP00000516154.1:p.Lys331Glu
ENST00000268124.11:c.991A>G MANE Select	ENSP00000268124.5:p.Lys331Glu
ENST00000530292.3:c.592A>G	ENSP00000432885.2:p.Lys198Glu
ENST00000635986.2:c.991A>G	ENSP00000490653.2:p.Lys331Glu
ENST00000636774.1:c.991A>G	ENSP00000489799.1:p.Lys331Glu
ENST00000637264.1:c.63A>G
ENST00000666746.1:c.648A>G
ENST00000672071.1:n.1189A>G
ENST00000268124.9:c.991A>G	ENSP00000268124.5:p.Lys331Glu
ENST00000442287.6:c.991A>G	ENSP00000399851.2:p.Lys331Glu
ENST00000631044.2:c.*374A>G	ENSP00000486730.1:n.*374A>G
NM_001126131.1:c.991A>G	NP_001119603.1:p.Lys331Glu
NM_002693.2:c.991A>G	NP_002684.1:p.Lys331Glu
NM_001126131.2:c.991A>G	NP_001119603.1:p.Lys331Glu
NM_002693.3:c.991A>G MANE Select	NP_002684.1:p.Lys331Glu