Canonical Allele Identifier: CA393759368

Gene: POLG

Linked Data

• gnomAD v4: 15-89325614-C-G
• MyVariant Identifiers: chr15:g.89868845C>G (hg19) ; chr15:g.89325614C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325614C>G , CM000677.2:g.89325614C>G	GRCh38
NC_000015.9:g.89868845C>G , CM000677.1:g.89868845C>G	GRCh37
NC_000015.8:g.87669849C>G	NCBI36
NG_008218.1:g.14182G>C
NG_008218.2:g.14182G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1785G>C	ENSP00000516154.1:p.Gln595His
ENST00000268124.11:c.1785G>C MANE Select	ENSP00000268124.5:p.Gln595His
ENST00000530292.3:c.1386G>C	ENSP00000432885.2:p.Gln462His
ENST00000635986.2:c.1785G>C	ENSP00000490653.2:p.Gln595His
ENST00000636774.1:c.*352G>C	ENSP00000489799.1:n.*352G>C
ENST00000637238.1:c.522G>C	ENSP00000490756.1:p.Gln174His
ENST00000637264.1:c.857G>C
ENST00000666746.1:c.1362G>C
ENST00000670281.1:c.105G>C	ENSP00000499709.1:p.Gln35His
ENST00000672071.1:n.1983G>C
ENST00000672923.2:n.1888G>C
ENST00000268124.9:c.1785G>C	ENSP00000268124.5:p.Gln595His
ENST00000442287.6:c.1785G>C	ENSP00000399851.2:p.Gln595His
ENST00000526314.2:c.167G>C
ENST00000631044.2:c.*1168G>C	ENSP00000486730.1:n.*1168G>C
NM_001126131.1:c.1785G>C	NP_001119603.1:p.Gln595His
NM_002693.2:c.1785G>C	NP_002684.1:p.Gln595His
NM_001126131.2:c.1785G>C	NP_001119603.1:p.Gln595His
NM_002693.3:c.1785G>C MANE Select	NP_002684.1:p.Gln595His