Canonical Allele Identifier: CA972595444

Gene: POLG

Linked Data

• dbSNP Id: rs2055424604
• gnomAD v3: 15-89323281-T-C
• gnomAD v4: 15-89323281-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323281T>C , CM000677.2:g.89323281T>C	GRCh38
NC_000015.9:g.89866512T>C , CM000677.1:g.89866512T>C	GRCh37
NC_000015.8:g.87667516T>C	NCBI36
NG_008218.1:g.16515A>G
NG_008218.2:g.16515A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2265+123A>G	ENSP00000516154.1:n.2265+123A>G
ENST00000268124.11:c.2265+123A>G MANE Select	ENSP00000268124.5:n.2265+123A>G
ENST00000530292.3:c.1866+123A>G	ENSP00000432885.2:n.1866+123A>G
ENST00000635986.2:c.2265+123A>G	ENSP00000490653.2:n.2265+123A>G
ENST00000636774.1:c.*832+123A>G	ENSP00000489799.1:n.*832+123A>G
ENST00000637238.1:c.962+123A>G	ENSP00000490756.1:n.962+123A>G
ENST00000637264.1:c.1337+123A>G
ENST00000666746.1:c.1842+123A>G
ENST00000670281.1:c.585+123A>G	ENSP00000499709.1:n.585+123A>G
ENST00000672071.1:n.2463+123A>G
ENST00000672923.2:n.2368+123A>G
ENST00000268124.9:c.2265+123A>G	ENSP00000268124.5:n.2265+123A>G
ENST00000442287.6:c.2265+123A>G	ENSP00000399851.2:n.2265+123A>G
ENST00000526314.2:c.540-379A>G
ENST00000526398.1:c.414+123A>G
ENST00000528881.2:c.34+123A>G
ENST00000530715.5:c.24+123A>G	ENSP00000431395.1:n.24+123A>G
ENST00000532584.5:n.467+123A>G
ENST00000631044.2:c.*1689+123A>G	ENSP00000486730.1:n.*1689+123A>G
NM_001126131.1:c.2265+123A>G	NP_001119603.1:n.2265+123A>G
NM_002693.2:c.2265+123A>G	NP_002684.1:n.2265+123A>G
NM_001126131.2:c.2265+123A>G	NP_001119603.1:n.2265+123A>G
NM_002693.3:c.2265+123A>G MANE Select	NP_002684.1:n.2265+123A>G