Canonical Allele Identifier: CA7724082

Gene: POLG

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317389G>A , CM000677.2:g.89317389G>A	GRCh38
NC_000015.9:g.89860620G>A , CM000677.1:g.89860620G>A	GRCh37
NC_000015.8:g.87661624G>A	NCBI36
NG_008218.1:g.22407C>T
NG_011736.1:g.78427G>A , LRG_500:g.78427G>A
NG_008218.2:g.22407C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3630C>T	ENSP00000516154.1:p.Tyr1210=
ENST00000268124.11:c.3630C>T MANE Select	ENSP00000268124.5:p.Tyr1210=
ENST00000530292.3:c.3330C>T	ENSP00000432885.2:n.3330C>T
ENST00000635986.2:c.*700C>T	ENSP00000490653.2:n.*700C>T
ENST00000636774.1:c.*2234C>T	ENSP00000489799.1:n.*2234C>T
ENST00000637238.1:c.2538C>T	ENSP00000490756.1:n.2538C>T
ENST00000637264.1:c.2642C>T
ENST00000666746.1:c.3207C>T
ENST00000672071.1:n.4832C>T
ENST00000672695.1:n.1409C>T
ENST00000672923.2:n.3630C>T
ENST00000268124.9:c.3630C>T	ENSP00000268124.5:p.Tyr1210=
ENST00000442287.6:c.3630C>T	ENSP00000399851.2:p.Tyr1210=
ENST00000526671.1:n.440C>T
ENST00000530292.2:c.813C>T	ENSP00000432885.1:n.813C>T
ENST00000631044.2:c.*3054C>T	ENSP00000486730.1:n.*3054C>T
NM_001126131.1:c.3630C>T	NP_001119603.1:p.Tyr1210=
NM_002693.2:c.3630C>T	NP_002684.1:p.Tyr1210=
NM_001126131.2:c.3630C>T	NP_001119603.1:p.Tyr1210=
NM_002693.3:c.3630C>T MANE Select	NP_002684.1:p.Tyr1210=