Canonical Allele Identifier: CA393765250

Gene: POLG

Linked Data

• gnomAD v4: 15-89328822-A-G
• MyVariant Identifiers: chr15:g.89872053A>G (hg19) ; chr15:g.89328822A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328822A>G , CM000677.2:g.89328822A>G	GRCh38
NC_000015.9:g.89872053A>G , CM000677.1:g.89872053A>G	GRCh37
NC_000015.8:g.87673057A>G	NCBI36
NG_008218.1:g.10974T>C
NG_008218.2:g.10974T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1033T>C	ENSP00000516154.1:p.Trp345Arg
ENST00000268124.11:c.1033T>C MANE Select	ENSP00000268124.5:p.Trp345Arg
ENST00000530292.3:c.634T>C	ENSP00000432885.2:p.Trp212Arg
ENST00000635986.2:c.1033T>C	ENSP00000490653.2:p.Trp345Arg
ENST00000636774.1:c.1033T>C	ENSP00000489799.1:p.Trp345Arg
ENST00000637264.1:c.105T>C
ENST00000666746.1:c.690T>C
ENST00000672071.1:n.1231T>C
ENST00000672923.2:n.30T>C
ENST00000268124.9:c.1033T>C	ENSP00000268124.5:p.Trp345Arg
ENST00000442287.6:c.1033T>C	ENSP00000399851.2:p.Trp345Arg
ENST00000631044.2:c.*416T>C	ENSP00000486730.1:n.*416T>C
NM_001126131.1:c.1033T>C	NP_001119603.1:p.Trp345Arg
NM_002693.2:c.1033T>C	NP_002684.1:p.Trp345Arg
NM_001126131.2:c.1033T>C	NP_001119603.1:p.Trp345Arg
NM_002693.3:c.1033T>C MANE Select	NP_002684.1:p.Trp345Arg