Canonical Allele Identifier: CA393747257

Gene: POLG

Linked Data

• gnomAD v4: 15-89317395-C-G
• MyVariant Identifiers: chr15:g.89860626C>G (hg19) ; chr15:g.89317395C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317395C>G , CM000677.2:g.89317395C>G	GRCh38
NC_000015.9:g.89860626C>G , CM000677.1:g.89860626C>G	GRCh37
NC_000015.8:g.87661630C>G	NCBI36
NG_008218.1:g.22401G>C
NG_011736.1:g.78433C>G , LRG_500:g.78433C>G
NG_008218.2:g.22401G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3624G>C	ENSP00000516154.1:p.Arg1208Ser
ENST00000268124.11:c.3624G>C MANE Select	ENSP00000268124.5:p.Arg1208Ser
ENST00000530292.3:c.3324G>C	ENSP00000432885.2:n.3324G>C
ENST00000635986.2:c.*694G>C	ENSP00000490653.2:n.*694G>C
ENST00000636774.1:c.*2228G>C	ENSP00000489799.1:n.*2228G>C
ENST00000637238.1:c.2532G>C	ENSP00000490756.1:n.2532G>C
ENST00000637264.1:c.2636G>C
ENST00000666746.1:c.3201G>C
ENST00000672071.1:n.4826G>C
ENST00000672695.1:n.1403G>C
ENST00000672923.2:n.3624G>C
ENST00000268124.9:c.3624G>C	ENSP00000268124.5:p.Arg1208Ser
ENST00000442287.6:c.3624G>C	ENSP00000399851.2:p.Arg1208Ser
ENST00000526671.1:n.434G>C
ENST00000530292.2:c.807G>C	ENSP00000432885.1:n.807G>C
ENST00000631044.2:c.*3048G>C	ENSP00000486730.1:n.*3048G>C
NM_001126131.1:c.3624G>C	NP_001119603.1:p.Arg1208Ser
NM_002693.2:c.3624G>C	NP_002684.1:p.Arg1208Ser
NM_001126131.2:c.3624G>C	NP_001119603.1:p.Arg1208Ser
NM_002693.3:c.3624G>C MANE Select	NP_002684.1:p.Arg1208Ser