Canonical Allele Identifier: CA393749740

Gene: POLG

Linked Data

• dbSNP Id: rs1446236483
• MyVariant Identifiers: chr15:g.89861820T>G (hg19) ; chr15:g.89318589T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318589T>G , CM000677.2:g.89318589T>G	GRCh38
NC_000015.9:g.89861820T>G , CM000677.1:g.89861820T>G	GRCh37
NC_000015.8:g.87662824T>G	NCBI36
NG_008218.1:g.21207A>C
NG_011736.1:g.79627T>G , LRG_500:g.79627T>G
NG_008218.2:g.21207A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3434A>C	ENSP00000516154.1:p.Asp1145Ala
ENST00000268124.11:c.3434A>C MANE Select	ENSP00000268124.5:p.Asp1145Ala
ENST00000530292.3:c.3035A>C	ENSP00000432885.2:p.Asp1012Ala
ENST00000635986.2:c.*504A>C	ENSP00000490653.2:n.*504A>C
ENST00000636774.1:c.*2001A>C	ENSP00000489799.1:n.*2001A>C
ENST00000637238.1:c.2243A>C	ENSP00000490756.1:n.2243A>C
ENST00000637264.1:c.2506A>C
ENST00000666746.1:c.3011A>C
ENST00000672071.1:n.3632A>C
ENST00000672695.1:n.611A>C
ENST00000672923.2:n.3434A>C
ENST00000268124.9:c.3434A>C	ENSP00000268124.5:p.Asp1145Ala
ENST00000442287.6:c.3434A>C	ENSP00000399851.2:p.Asp1145Ala
ENST00000530292.2:c.518A>C	ENSP00000432885.1:p.Asp173Ala
ENST00000631044.2:c.*2858A>C	ENSP00000486730.1:n.*2858A>C
NM_001126131.1:c.3434A>C	NP_001119603.1:p.Asp1145Ala
NM_002693.2:c.3434A>C	NP_002684.1:p.Asp1145Ala
NM_001126131.2:c.3434A>C	NP_001119603.1:p.Asp1145Ala
NM_002693.3:c.3434A>C MANE Select	NP_002684.1:p.Asp1145Ala