Canonical Allele Identifier: CA2573151251

Gene: POLG

Linked Data

• ClinVar Variation Id: 1546000
• ClinVar RCV Id: RCV002170453
• dbSNP Id: rs2152061781
• gnomAD v4: 15-89321866-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321866A>C , CM000677.2:g.89321866A>C	GRCh38
NC_000015.9:g.89865097A>C , CM000677.1:g.89865097A>C	GRCh37
NC_000015.8:g.87666101A>C	NCBI36
NG_008218.1:g.17930T>G
NG_008218.2:g.17930T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2481-13T>G	ENSP00000516154.1:n.2481-13T>G
ENST00000268124.11:c.2481-13T>G MANE Select	ENSP00000268124.5:n.2481-13T>G
ENST00000530292.3:c.2082-13T>G	ENSP00000432885.2:n.2082-13T>G
ENST00000635986.2:c.2481-13T>G	ENSP00000490653.2:n.2481-13T>G
ENST00000636774.1:c.*1048-13T>G	ENSP00000489799.1:n.*1048-13T>G
ENST00000637238.1:c.1178-13T>G	ENSP00000490756.1:n.1178-13T>G
ENST00000637264.1:c.1553-13T>G
ENST00000666746.1:c.2058-13T>G
ENST00000670281.1:c.800+96T>G	ENSP00000499709.1:n.800+96T>G
ENST00000672071.1:n.2679-13T>G
ENST00000672923.2:n.2423-13T>G
ENST00000268124.9:c.2481-13T>G	ENSP00000268124.5:n.2481-13T>G
ENST00000442287.6:c.2481-13T>G	ENSP00000399851.2:n.2481-13T>G
ENST00000528881.2:c.196-606T>G
ENST00000530715.5:c.185+876T>G	ENSP00000431395.1:n.185+876T>G
ENST00000532584.5:n.617T>G
ENST00000631044.2:c.*1905-13T>G	ENSP00000486730.1:n.*1905-13T>G
NM_001126131.1:c.2481-13T>G	NP_001119603.1:n.2481-13T>G
NM_002693.2:c.2481-13T>G	NP_002684.1:n.2481-13T>G
NM_001126131.2:c.2481-13T>G	NP_001119603.1:n.2481-13T>G
NM_002693.3:c.2481-13T>G MANE Select	NP_002684.1:n.2481-13T>G