Canonical Allele Identifier: CA393748005
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317507T>C , CM000677.2:g.89317507T>C GRCh38
NC_000015.9:g.89860738T>C , CM000677.1:g.89860738T>C GRCh37
NC_000015.8:g.87661742T>C NCBI36
NG_008218.1:g.22289A>G
NG_011736.1:g.78545T>C , LRG_500:g.78545T>C
NG_008218.2:g.22289A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3512A>G ENSP00000516154.1:p.Asn1171Ser
ENST00000268124.11:c.3512A>G MANE Select ENSP00000268124.5:p.Asn1171Ser
ENST00000530292.3:c.3212A>G ENSP00000432885.2:n.3212A>G
ENST00000635986.2:c.*582A>G ENSP00000490653.2:n.*582A>G
ENST00000636774.1:c.*2116A>G ENSP00000489799.1:n.*2116A>G
ENST00000637042.1:n.72-36A>G
ENST00000637238.1:c.2420A>G ENSP00000490756.1:n.2420A>G
ENST00000637264.1:c.2555-31A>G
ENST00000666746.1:c.3089A>G
ENST00000672071.1:n.4714A>G
ENST00000672695.1:n.1291A>G
ENST00000672923.2:n.3512A>G
ENST00000268124.9:c.3512A>G ENSP00000268124.5:p.Asn1171Ser
ENST00000442287.6:c.3512A>G ENSP00000399851.2:p.Asn1171Ser
ENST00000526671.1:n.322A>G
ENST00000530292.2:c.695A>G ENSP00000432885.1:n.695A>G
ENST00000631044.2:c.*2936A>G ENSP00000486730.1:n.*2936A>G
NM_001126131.1:c.3512A>G NP_001119603.1:p.Asn1171Ser
NM_002693.2:c.3512A>G NP_002684.1:p.Asn1171Ser
NM_001126131.2:c.3512A>G NP_001119603.1:p.Asn1171Ser
NM_002693.3:c.3512A>G MANE Select NP_002684.1:p.Asn1171Ser