Canonical Allele Identifier: CA7724084

Gene: POLG

Linked Data

• ClinVar Variation Id: 619343
• ClinVar RCV Id: RCV000758335 ; RCV003985818
• dbSNP Id: rs772737979
• ExAC: 15:89860636 C / G
• gnomAD v2: 15-89860636-C-G
• gnomAD v4: 15-89317405-C-G
• MyVariant Identifiers: chr15:g.89860636C>G (hg19) ; chr15:g.89317405C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317405C>G , CM000677.2:g.89317405C>G	GRCh38
NC_000015.9:g.89860636C>G , CM000677.1:g.89860636C>G	GRCh37
NC_000015.8:g.87661640C>G	NCBI36
NG_008218.1:g.22391G>C
NG_011736.1:g.78443C>G , LRG_500:g.78443C>G
NG_008218.2:g.22391G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3614G>C	ENSP00000516154.1:p.Gly1205Ala
ENST00000268124.11:c.3614G>C MANE Select	ENSP00000268124.5:p.Gly1205Ala
ENST00000530292.3:c.3314G>C	ENSP00000432885.2:n.3314G>C
ENST00000635986.2:c.*684G>C	ENSP00000490653.2:n.*684G>C
ENST00000636774.1:c.*2218G>C	ENSP00000489799.1:n.*2218G>C
ENST00000637238.1:c.2522G>C	ENSP00000490756.1:n.2522G>C
ENST00000637264.1:c.2626G>C
ENST00000666746.1:c.3191G>C
ENST00000672071.1:n.4816G>C
ENST00000672695.1:n.1393G>C
ENST00000672923.2:n.3614G>C
ENST00000268124.9:c.3614G>C	ENSP00000268124.5:p.Gly1205Ala
ENST00000442287.6:c.3614G>C	ENSP00000399851.2:p.Gly1205Ala
ENST00000526671.1:n.424G>C
ENST00000530292.2:c.797G>C	ENSP00000432885.1:n.797G>C
ENST00000631044.2:c.*3038G>C	ENSP00000486730.1:n.*3038G>C
NM_001126131.1:c.3614G>C	NP_001119603.1:p.Gly1205Ala
NM_002693.2:c.3614G>C	NP_002684.1:p.Gly1205Ala
NM_001126131.2:c.3614G>C	NP_001119603.1:p.Gly1205Ala
NM_002693.3:c.3614G>C MANE Select	NP_002684.1:p.Gly1205Ala