Canonical Allele Identifier: CA393766544

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330090G>C , CM000677.2:g.89330090G>C	GRCh38
NC_000015.9:g.89873321G>C , CM000677.1:g.89873321G>C	GRCh37
NC_000015.8:g.87674325G>C	NCBI36
NG_008218.1:g.9706C>G
NG_008218.2:g.9706C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.846C>G MANE Select	NP_002684.1:p.Tyr282Ter
ENST00000268124.11:c.846C>G MANE Select	ENSP00000268124.5:p.Tyr282Ter
NM_001126131.1:c.846C>G	NP_001119603.1:p.Tyr282Ter
NM_001126131.2:c.846C>G	NP_001119603.1:p.Tyr282Ter
NM_002693.2:c.846C>G	NP_002684.1:p.Tyr282Ter
ENST00000268124.9:c.846C>G	ENSP00000268124.5:p.Tyr282Ter
ENST00000442287.6:c.846C>G	ENSP00000399851.2:p.Tyr282Ter
ENST00000530292.3:c.447C>G	ENSP00000432885.2:p.Tyr149Ter
ENST00000631044.2:c.*229C>G	ENSP00000486730.1:n.*229C>G
ENST00000635986.2:c.846C>G	ENSP00000490653.2:p.Tyr282Ter
ENST00000636774.1:c.846C>G	ENSP00000489799.1:p.Tyr282Ter
ENST00000636937.2:c.846C>G	ENSP00000516154.1:p.Tyr282Ter
ENST00000666746.1:c.503C>G
ENST00000672071.1:n.1044C>G