Canonical Allele Identifier: CA7724549

Gene: POLG

Linked Data

• ClinVar Variation Id: 589968
• ClinVar RCV Id: RCV001766585 ; RCV002318153
• dbSNP Id: rs780723692
• ExAC: 15:89866703 G / A
• gnomAD v2: 15-89866703-G-A
• gnomAD v3: 15-89323472-G-A
• gnomAD v4: 15-89323472-G-A
• MyVariant Identifiers: chr15:g.89866703G>A (hg19) ; chr15:g.89323472G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323472G>A , CM000677.2:g.89323472G>A	GRCh38
NC_000015.9:g.89866703G>A , CM000677.1:g.89866703G>A	GRCh37
NC_000015.8:g.87667707G>A	NCBI36
NG_008218.1:g.16324C>T
NG_008218.2:g.16324C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2197C>T	ENSP00000516154.1:p.His733Tyr
ENST00000268124.11:c.2197C>T MANE Select	ENSP00000268124.5:p.His733Tyr
ENST00000530292.3:c.1798C>T	ENSP00000432885.2:p.His600Tyr
ENST00000635986.2:c.2197C>T	ENSP00000490653.2:p.His733Tyr
ENST00000636774.1:c.*764C>T	ENSP00000489799.1:n.*764C>T
ENST00000637238.1:c.894C>T	ENSP00000490756.1:n.894C>T
ENST00000637264.1:c.1269C>T
ENST00000666746.1:c.1774C>T
ENST00000670281.1:c.517C>T	ENSP00000499709.1:p.His173Tyr
ENST00000672071.1:n.2395C>T
ENST00000672923.2:n.2300C>T
ENST00000268124.9:c.2197C>T	ENSP00000268124.5:p.His733Tyr
ENST00000442287.6:c.2197C>T	ENSP00000399851.2:p.His733Tyr
ENST00000526314.2:c.539+343C>T
ENST00000526398.1:c.346C>T
ENST00000532584.5:n.399C>T
ENST00000631044.2:c.*1621C>T	ENSP00000486730.1:n.*1621C>T
NM_001126131.1:c.2197C>T	NP_001119603.1:p.His733Tyr
NM_002693.2:c.2197C>T	NP_002684.1:p.His733Tyr
NM_001126131.2:c.2197C>T	NP_001119603.1:p.His733Tyr
NM_002693.3:c.2197C>T MANE Select	NP_002684.1:p.His733Tyr