Canonical Allele Identifier: CA619857613

Gene: POLG

Linked Data

• dbSNP Id: rs1223405280
• gnomAD v2: 15-89860831-G-A
• gnomAD v3: 15-89317600-G-A
• gnomAD v4: 15-89317600-G-A
• MyVariant Identifiers: chr15:g.89860831G>A (hg19) ; chr15:g.89317600G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317600G>A , CM000677.2:g.89317600G>A	GRCh38
NC_000015.9:g.89860831G>A , CM000677.1:g.89860831G>A	GRCh37
NC_000015.8:g.87661835G>A	NCBI36
NG_008218.1:g.22196C>T
NG_011736.1:g.78638G>A , LRG_500:g.78638G>A
NG_008218.2:g.22196C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-64C>T	ENSP00000516154.1:n.3483-64C>T
ENST00000268124.11:c.3483-64C>T MANE Select	ENSP00000268124.5:n.3483-64C>T
ENST00000530292.3:c.3183-64C>T	ENSP00000432885.2:n.3183-64C>T
ENST00000635986.2:c.*553-64C>T	ENSP00000490653.2:n.*553-64C>T
ENST00000636774.1:c.*2087-64C>T	ENSP00000489799.1:n.*2087-64C>T
ENST00000637042.1:n.72-129C>T
ENST00000637238.1:c.2391-64C>T	ENSP00000490756.1:n.2391-64C>T
ENST00000637264.1:c.2555-124C>T
ENST00000666746.1:c.3060-64C>T
ENST00000672071.1:n.4621C>T
ENST00000672695.1:n.1262-64C>T
ENST00000672923.2:n.3483-64C>T
ENST00000268124.9:c.3483-64C>T	ENSP00000268124.5:n.3483-64C>T
ENST00000442287.6:c.3483-64C>T	ENSP00000399851.2:n.3483-64C>T
ENST00000526671.1:n.229C>T
ENST00000530292.2:c.666-64C>T	ENSP00000432885.1:n.666-64C>T
ENST00000631044.2:c.*2907-64C>T	ENSP00000486730.1:n.*2907-64C>T
NM_001126131.1:c.3483-64C>T	NP_001119603.1:n.3483-64C>T
NM_002693.2:c.3483-64C>T	NP_002684.1:n.3483-64C>T
NM_001126131.2:c.3483-64C>T	NP_001119603.1:n.3483-64C>T
NM_002693.3:c.3483-64C>T MANE Select	NP_002684.1:n.3483-64C>T