Canonical Allele Identifier: CA393761253

Gene: POLG

Linked Data

• gnomAD v4: 15-89327053-C-G
• MyVariant Identifiers: chr15:g.89870284C>G (hg19) ; chr15:g.89327053C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327053C>G , CM000677.2:g.89327053C>G	GRCh38
NC_000015.9:g.89870284C>G , CM000677.1:g.89870284C>G	GRCh37
NC_000015.8:g.87671288C>G	NCBI36
NG_008218.1:g.12743G>C
NG_008218.2:g.12743G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1444G>C	ENSP00000516154.1:p.Asp482His
ENST00000268124.11:c.1444G>C MANE Select	ENSP00000268124.5:p.Asp482His
ENST00000530292.3:c.1045G>C	ENSP00000432885.2:p.Asp349His
ENST00000635986.2:c.1444G>C	ENSP00000490653.2:p.Asp482His
ENST00000636774.1:c.*11G>C	ENSP00000489799.1:n.*11G>C
ENST00000637238.1:c.181G>C	ENSP00000490756.1:p.Asp61His
ENST00000637264.1:c.516G>C
ENST00000666746.1:c.1021G>C
ENST00000672071.1:n.1642G>C
ENST00000672923.2:n.1547G>C
ENST00000268124.9:c.1444G>C	ENSP00000268124.5:p.Asp482His
ENST00000442287.6:c.1444G>C	ENSP00000399851.2:p.Asp482His
ENST00000532363.2:n.405G>C
ENST00000631044.2:c.*827G>C	ENSP00000486730.1:n.*827G>C
NM_001126131.1:c.1444G>C	NP_001119603.1:p.Asp482His
NM_002693.2:c.1444G>C	NP_002684.1:p.Asp482His
NM_001126131.2:c.1444G>C	NP_001119603.1:p.Asp482His
NM_002693.3:c.1444G>C MANE Select	NP_002684.1:p.Asp482His