Canonical Allele Identifier: CA2194541191

Gene: POLG

Linked Data

• dbSNP Id: rs2055337825

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318399A>T , CM000677.2:g.89318399A>T	GRCh38
NC_000015.9:g.89861630A>T , CM000677.1:g.89861630A>T	GRCh37
NC_000015.8:g.87662634A>T	NCBI36
NG_008218.1:g.21397T>A
NG_011736.1:g.79437A>T , LRG_500:g.79437A>T
NG_008218.2:g.21397T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+142T>A	ENSP00000516154.1:n.3482+142T>A
ENST00000268124.11:c.3482+142T>A MANE Select	ENSP00000268124.5:n.3482+142T>A
ENST00000530292.3:c.3083+142T>A	ENSP00000432885.2:n.3083+142T>A
ENST00000635986.2:c.*552+142T>A	ENSP00000490653.2:n.*552+142T>A
ENST00000636774.1:c.*2049+142T>A	ENSP00000489799.1:n.*2049+142T>A
ENST00000637238.1:c.2291+142T>A	ENSP00000490756.1:n.2291+142T>A
ENST00000637264.1:c.2554+142T>A
ENST00000666746.1:c.3059+142T>A
ENST00000672071.1:n.3822T>A
ENST00000672695.1:n.801T>A
ENST00000672923.2:n.3482+142T>A
ENST00000268124.9:c.3482+142T>A	ENSP00000268124.5:n.3482+142T>A
ENST00000442287.6:c.3482+142T>A	ENSP00000399851.2:n.3482+142T>A
ENST00000530292.2:c.566+142T>A	ENSP00000432885.1:n.566+142T>A
ENST00000631044.2:c.*2906+142T>A	ENSP00000486730.1:n.*2906+142T>A
NM_001126131.1:c.3482+142T>A	NP_001119603.1:n.3482+142T>A
NM_002693.2:c.3482+142T>A	NP_002684.1:n.3482+142T>A
NM_001126131.2:c.3482+142T>A	NP_001119603.1:n.3482+142T>A
NM_002693.3:c.3482+142T>A MANE Select	NP_002684.1:n.3482+142T>A