Canonical Allele Identifier: CA393751149

Gene: POLG

Linked Data

• dbSNP Id: rs1316103899
• gnomAD v2: 15-89862310-T-G
• gnomAD v3: 15-89319079-T-G
• gnomAD v4: 15-89319079-T-G
• MyVariant Identifiers: chr15:g.89862310T>G (hg19) ; chr15:g.89319079T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319079T>G , CM000677.2:g.89319079T>G	GRCh38
NC_000015.9:g.89862310T>G , CM000677.1:g.89862310T>G	GRCh37
NC_000015.8:g.87663314T>G	NCBI36
NG_008218.1:g.20717A>C
NG_011736.1:g.80117T>G , LRG_500:g.80117T>G
NG_008218.2:g.20717A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3125A>C	ENSP00000516154.1:p.Glu1042Ala
ENST00000268124.11:c.3125A>C MANE Select	ENSP00000268124.5:p.Glu1042Ala
ENST00000530292.3:c.2726A>C	ENSP00000432885.2:p.Glu909Ala
ENST00000635986.2:c.*195A>C	ENSP00000490653.2:n.*195A>C
ENST00000636530.1:n.85A>C
ENST00000636774.1:c.*1692A>C	ENSP00000489799.1:n.*1692A>C
ENST00000637238.1:c.1934A>C	ENSP00000490756.1:n.1934A>C
ENST00000637264.1:c.2197A>C
ENST00000666746.1:c.2702A>C
ENST00000672071.1:n.3323A>C
ENST00000672695.1:n.302A>C
ENST00000672923.2:n.3125A>C
ENST00000268124.9:c.3125A>C	ENSP00000268124.5:p.Glu1042Ala
ENST00000442287.6:c.3125A>C	ENSP00000399851.2:p.Glu1042Ala
ENST00000530292.2:c.209A>C	ENSP00000432885.1:p.Glu70Ala
ENST00000631044.2:c.*2549A>C	ENSP00000486730.1:n.*2549A>C
NM_001126131.1:c.3125A>C	NP_001119603.1:p.Glu1042Ala
NM_002693.2:c.3125A>C	NP_002684.1:p.Glu1042Ala
NM_001126131.2:c.3125A>C	NP_001119603.1:p.Glu1042Ala
NM_002693.3:c.3125A>C MANE Select	NP_002684.1:p.Glu1042Ala