Canonical Allele Identifier: CA7724221

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319052C>G , CM000677.2:g.89319052C>G	GRCh38
NC_000015.9:g.89862283C>G , CM000677.1:g.89862283C>G	GRCh37
NC_000015.8:g.87663287C>G	NCBI36
NG_008218.1:g.20744G>C
NG_011736.1:g.80090C>G , LRG_500:g.80090C>G
NG_008218.2:g.20744G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.3152G>C MANE Select	NP_002684.1:p.Gly1051Ala
ENST00000268124.11:c.3152G>C MANE Select	ENSP00000268124.5:p.Gly1051Ala
NM_001126131.1:c.3152G>C	NP_001119603.1:p.Gly1051Ala
NM_001126131.2:c.3152G>C	NP_001119603.1:p.Gly1051Ala
NM_002693.2:c.3152G>C	NP_002684.1:p.Gly1051Ala
ENST00000268124.9:c.3152G>C	ENSP00000268124.5:p.Gly1051Ala
ENST00000442287.6:c.3152G>C	ENSP00000399851.2:p.Gly1051Ala
ENST00000530292.2:c.236G>C	ENSP00000432885.1:p.Gly79Ala
ENST00000530292.3:c.2753G>C	ENSP00000432885.2:p.Gly918Ala
ENST00000631044.2:c.*2576G>C	ENSP00000486730.1:n.*2576G>C
ENST00000635986.2:c.*222G>C	ENSP00000490653.2:n.*222G>C
ENST00000636774.1:c.*1719G>C	ENSP00000489799.1:n.*1719G>C
ENST00000636937.2:c.3152G>C	ENSP00000516154.1:p.Gly1051Ala
ENST00000637238.1:c.1961G>C	ENSP00000490756.1:n.1961G>C
ENST00000637264.1:c.2224G>C
ENST00000666746.1:c.2729G>C
ENST00000672071.1:n.3350G>C
ENST00000672695.1:n.329G>C
ENST00000672923.2:n.3152G>C