Canonical Allele Identifier: CA274546912

Gene: POLG

Linked Data

• dbSNP Id: rs548358708
• gnomAD v2: 15-89864727-A-G
• gnomAD v3: 15-89321496-A-G
• gnomAD v4: 15-89321496-A-G
• MyVariant Identifiers: chr15:g.89864727A>G (hg19) ; chr15:g.89321496A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321496A>G , CM000677.2:g.89321496A>G	GRCh38
NC_000015.9:g.89864727A>G , CM000677.1:g.89864727A>G	GRCh37
NC_000015.8:g.87665731A>G	NCBI36
NG_008218.1:g.18300T>C
NG_008218.2:g.18300T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2599-236T>C	ENSP00000516154.1:n.2599-236T>C
ENST00000268124.11:c.2599-236T>C MANE Select	ENSP00000268124.5:n.2599-236T>C
ENST00000530292.3:c.2200-236T>C	ENSP00000432885.2:n.2200-236T>C
ENST00000635986.2:c.2599-236T>C	ENSP00000490653.2:n.2599-236T>C
ENST00000636774.1:c.*1166-236T>C	ENSP00000489799.1:n.*1166-236T>C
ENST00000637238.1:c.1296-236T>C	ENSP00000490756.1:n.1296-236T>C
ENST00000637264.1:c.1671-236T>C
ENST00000666746.1:c.2176-236T>C
ENST00000670281.1:c.800+466T>C	ENSP00000499709.1:n.800+466T>C
ENST00000672071.1:n.2797-236T>C
ENST00000672923.2:n.2541-236T>C
ENST00000268124.9:c.2599-236T>C	ENSP00000268124.5:n.2599-236T>C
ENST00000442287.6:c.2599-236T>C	ENSP00000399851.2:n.2599-236T>C
ENST00000528881.2:c.196-236T>C
ENST00000530715.5:c.186-627T>C	ENSP00000431395.1:n.186-627T>C
ENST00000631044.2:c.*2023-236T>C	ENSP00000486730.1:n.*2023-236T>C
NM_001126131.1:c.2599-236T>C	NP_001119603.1:n.2599-236T>C
NM_002693.2:c.2599-236T>C	NP_002684.1:n.2599-236T>C
NM_001126131.2:c.2599-236T>C	NP_001119603.1:n.2599-236T>C
NM_002693.3:c.2599-236T>C MANE Select	NP_002684.1:n.2599-236T>C