Canonical Allele Identifier: CA7724203

Gene: POLG

Linked Data

• dbSNP Id: rs758261459
• ExAC: 15:89862202 C / G
• gnomAD v2: 15-89862202-C-G
• gnomAD v3: 15-89318971-C-G
• gnomAD v4: 15-89318971-C-G
• MyVariant Identifiers: chr15:g.89862202C>G (hg19) ; chr15:g.89318971C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318971C>G , CM000677.2:g.89318971C>G	GRCh38
NC_000015.9:g.89862202C>G , CM000677.1:g.89862202C>G	GRCh37
NC_000015.8:g.87663206C>G	NCBI36
NG_008218.1:g.20825G>C
NG_011736.1:g.80009C>G , LRG_500:g.80009C>G
NG_008218.2:g.20825G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3233G>C	ENSP00000516154.1:p.Cys1078Ser
ENST00000268124.11:c.3233G>C MANE Select	ENSP00000268124.5:p.Cys1078Ser
ENST00000530292.3:c.2834G>C	ENSP00000432885.2:p.Cys945Ser
ENST00000635986.2:c.*303G>C	ENSP00000490653.2:n.*303G>C
ENST00000636774.1:c.*1800G>C	ENSP00000489799.1:n.*1800G>C
ENST00000637238.1:c.2042G>C	ENSP00000490756.1:n.2042G>C
ENST00000637264.1:c.2305G>C
ENST00000666746.1:c.2810G>C
ENST00000672071.1:n.3431G>C
ENST00000672695.1:n.410G>C
ENST00000672923.2:n.3233G>C
ENST00000268124.9:c.3233G>C	ENSP00000268124.5:p.Cys1078Ser
ENST00000442287.6:c.3233G>C	ENSP00000399851.2:p.Cys1078Ser
ENST00000530292.2:c.317G>C	ENSP00000432885.1:p.Cys106Ser
ENST00000631044.2:c.*2657G>C	ENSP00000486730.1:n.*2657G>C
NM_001126131.1:c.3233G>C	NP_001119603.1:p.Cys1078Ser
NM_002693.2:c.3233G>C	NP_002684.1:p.Cys1078Ser
NM_001126131.2:c.3233G>C	NP_001119603.1:p.Cys1078Ser
NM_002693.3:c.3233G>C MANE Select	NP_002684.1:p.Cys1078Ser