Canonical Allele Identifier: CA2499223141

Gene: POLG

Linked Data

• ClinVar Variation Id: 1078331
• ClinVar RCV Id: RCV001393256
• dbSNP Id: rs2152068008

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328840C>A , CM000677.2:g.89328840C>A	GRCh38
NC_000015.9:g.89872071C>A , CM000677.1:g.89872071C>A	GRCh37
NC_000015.8:g.87673075C>A	NCBI36
NG_008218.1:g.10956G>T
NG_008218.2:g.10956G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1024-9G>T	ENSP00000516154.1:n.1024-9G>T
ENST00000268124.11:c.1024-9G>T MANE Select	ENSP00000268124.5:n.1024-9G>T
ENST00000530292.3:c.625-9G>T	ENSP00000432885.2:n.625-9G>T
ENST00000635986.2:c.1024-9G>T	ENSP00000490653.2:n.1024-9G>T
ENST00000636774.1:c.1024-9G>T	ENSP00000489799.1:n.1024-9G>T
ENST00000637264.1:c.96-9G>T
ENST00000666746.1:c.681-9G>T
ENST00000672071.1:n.1222-9G>T
ENST00000672923.2:n.21-9G>T
ENST00000268124.9:c.1024-9G>T	ENSP00000268124.5:n.1024-9G>T
ENST00000442287.6:c.1024-9G>T	ENSP00000399851.2:n.1024-9G>T
ENST00000631044.2:c.*407-9G>T	ENSP00000486730.1:n.*407-9G>T
NM_001126131.1:c.1024-9G>T	NP_001119603.1:n.1024-9G>T
NM_002693.2:c.1024-9G>T	NP_002684.1:n.1024-9G>T
NM_001126131.2:c.1024-9G>T	NP_001119603.1:n.1024-9G>T
NM_002693.3:c.1024-9G>T MANE Select	NP_002684.1:n.1024-9G>T