Canonical Allele Identifier: CA7724539

Gene: POLG

Linked Data

• ClinVar Variation Id: 1963578
• ClinVar RCV Id: RCV002740090
• dbSNP Id: rs553677452
• ExAC: 15:89866677 G / A
• gnomAD v2: 15-89866677-G-A
• gnomAD v3: 15-89323446-G-A
• gnomAD v4: 15-89323446-G-A
• MyVariant Identifiers: chr15:g.89866677G>A (hg19) ; chr15:g.89323446G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323446G>A , CM000677.2:g.89323446G>A	GRCh38
NC_000015.9:g.89866677G>A , CM000677.1:g.89866677G>A	GRCh37
NC_000015.8:g.87667681G>A	NCBI36
NG_008218.1:g.16350C>T
NG_008218.2:g.16350C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2223C>T	ENSP00000516154.1:p.Asp741=
ENST00000268124.11:c.2223C>T MANE Select	ENSP00000268124.5:p.Asp741=
ENST00000530292.3:c.1824C>T	ENSP00000432885.2:p.Asp608=
ENST00000635986.2:c.2223C>T	ENSP00000490653.2:p.Asp741=
ENST00000636774.1:c.*790C>T	ENSP00000489799.1:n.*790C>T
ENST00000637238.1:c.920C>T	ENSP00000490756.1:n.920C>T
ENST00000637264.1:c.1295C>T
ENST00000666746.1:c.1800C>T
ENST00000670281.1:c.543C>T	ENSP00000499709.1:p.Asp181=
ENST00000672071.1:n.2421C>T
ENST00000672923.2:n.2326C>T
ENST00000268124.9:c.2223C>T	ENSP00000268124.5:p.Asp741=
ENST00000442287.6:c.2223C>T	ENSP00000399851.2:p.Asp741=
ENST00000526314.2:c.539+369C>T
ENST00000526398.1:c.372C>T
ENST00000532584.5:n.425C>T
ENST00000631044.2:c.*1647C>T	ENSP00000486730.1:n.*1647C>T
NM_001126131.1:c.2223C>T	NP_001119603.1:p.Asp741=
NM_002693.2:c.2223C>T	NP_002684.1:p.Asp741=
NM_001126131.2:c.2223C>T	NP_001119603.1:p.Asp741=
NM_002693.3:c.2223C>T MANE Select	NP_002684.1:p.Asp741=