Canonical Allele Identifier: CA7724105

Gene: POLG

Linked Data

• dbSNP Id: rs764428141
• ExAC: 15:89860725 C / G
• gnomAD v2: 15-89860725-C-G
• gnomAD v3: 15-89317494-C-G
• gnomAD v4: 15-89317494-C-G
• MyVariant Identifiers: chr15:g.89860725C>G (hg19) ; chr15:g.89317494C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317494C>G , CM000677.2:g.89317494C>G	GRCh38
NC_000015.9:g.89860725C>G , CM000677.1:g.89860725C>G	GRCh37
NC_000015.8:g.87661729C>G	NCBI36
NG_008218.1:g.22302G>C
NG_011736.1:g.78532C>G , LRG_500:g.78532C>G
NG_008218.2:g.22302G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3525G>C	ENSP00000516154.1:p.Gln1175His
ENST00000268124.11:c.3525G>C MANE Select	ENSP00000268124.5:p.Gln1175His
ENST00000530292.3:c.3225G>C	ENSP00000432885.2:n.3225G>C
ENST00000635986.2:c.*595G>C	ENSP00000490653.2:n.*595G>C
ENST00000636774.1:c.*2129G>C	ENSP00000489799.1:n.*2129G>C
ENST00000637042.1:n.72-23G>C
ENST00000637238.1:c.2433G>C	ENSP00000490756.1:n.2433G>C
ENST00000637264.1:c.2555-18G>C
ENST00000666746.1:c.3102G>C
ENST00000672071.1:n.4727G>C
ENST00000672695.1:n.1304G>C
ENST00000672923.2:n.3525G>C
ENST00000268124.9:c.3525G>C	ENSP00000268124.5:p.Gln1175His
ENST00000442287.6:c.3525G>C	ENSP00000399851.2:p.Gln1175His
ENST00000526671.1:n.335G>C
ENST00000530292.2:c.708G>C	ENSP00000432885.1:n.708G>C
ENST00000631044.2:c.*2949G>C	ENSP00000486730.1:n.*2949G>C
NM_001126131.1:c.3525G>C	NP_001119603.1:p.Gln1175His
NM_002693.2:c.3525G>C	NP_002684.1:p.Gln1175His
NM_001126131.2:c.3525G>C	NP_001119603.1:p.Gln1175His
NM_002693.3:c.3525G>C MANE Select	NP_002684.1:p.Gln1175His