Canonical Allele Identifier: CA2630254598

Gene: POLG

Linked Data

• ClinVar Variation Id: 2901064
• ClinVar RCV Id: RCV003627297
• gnomAD v4: 15-89321868-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321868G>A , CM000677.2:g.89321868G>A	GRCh38
NC_000015.9:g.89865099G>A , CM000677.1:g.89865099G>A	GRCh37
NC_000015.8:g.87666103G>A	NCBI36
NG_008218.1:g.17928C>T
NG_008218.2:g.17928C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2481-15C>T	ENSP00000516154.1:n.2481-15C>T
ENST00000268124.11:c.2481-15C>T MANE Select	ENSP00000268124.5:n.2481-15C>T
ENST00000530292.3:c.2082-15C>T	ENSP00000432885.2:n.2082-15C>T
ENST00000635986.2:c.2481-15C>T	ENSP00000490653.2:n.2481-15C>T
ENST00000636774.1:c.*1048-15C>T	ENSP00000489799.1:n.*1048-15C>T
ENST00000637238.1:c.1178-15C>T	ENSP00000490756.1:n.1178-15C>T
ENST00000637264.1:c.1553-15C>T
ENST00000666746.1:c.2058-15C>T
ENST00000670281.1:c.800+94C>T	ENSP00000499709.1:n.800+94C>T
ENST00000672071.1:n.2679-15C>T
ENST00000672923.2:n.2423-15C>T
ENST00000268124.9:c.2481-15C>T	ENSP00000268124.5:n.2481-15C>T
ENST00000442287.6:c.2481-15C>T	ENSP00000399851.2:n.2481-15C>T
ENST00000528881.2:c.196-608C>T
ENST00000530715.5:c.185+874C>T	ENSP00000431395.1:n.185+874C>T
ENST00000532584.5:n.615C>T
ENST00000631044.2:c.*1905-15C>T	ENSP00000486730.1:n.*1905-15C>T
NM_001126131.1:c.2481-15C>T	NP_001119603.1:n.2481-15C>T
NM_002693.2:c.2481-15C>T	NP_002684.1:n.2481-15C>T
NM_001126131.2:c.2481-15C>T	NP_001119603.1:n.2481-15C>T
NM_002693.3:c.2481-15C>T MANE Select	NP_002684.1:n.2481-15C>T