Canonical Allele Identifier: CA393765525

Gene: POLG

Linked Data

• gnomAD v4: 15-89328986-T-C
• MyVariant Identifiers: chr15:g.89872217T>C (hg19) ; chr15:g.89328986T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328986T>C , CM000677.2:g.89328986T>C	GRCh38
NC_000015.9:g.89872217T>C , CM000677.1:g.89872217T>C	GRCh37
NC_000015.8:g.87673221T>C	NCBI36
NG_008218.1:g.10810A>G
NG_008218.2:g.10810A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.980A>G	ENSP00000516154.1:p.Lys327Arg
ENST00000268124.11:c.980A>G MANE Select	ENSP00000268124.5:p.Lys327Arg
ENST00000530292.3:c.581A>G	ENSP00000432885.2:p.Lys194Arg
ENST00000635986.2:c.980A>G	ENSP00000490653.2:p.Lys327Arg
ENST00000636774.1:c.980A>G	ENSP00000489799.1:p.Lys327Arg
ENST00000637264.1:c.52A>G
ENST00000666746.1:c.637A>G
ENST00000672071.1:n.1178A>G
ENST00000268124.9:c.980A>G	ENSP00000268124.5:p.Lys327Arg
ENST00000442287.6:c.980A>G	ENSP00000399851.2:p.Lys327Arg
ENST00000631044.2:c.*363A>G	ENSP00000486730.1:n.*363A>G
NM_001126131.1:c.980A>G	NP_001119603.1:p.Lys327Arg
NM_002693.2:c.980A>G	NP_002684.1:p.Lys327Arg
NM_001126131.2:c.980A>G	NP_001119603.1:p.Lys327Arg
NM_002693.3:c.980A>G MANE Select	NP_002684.1:p.Lys327Arg