Canonical Allele Identifier: CA2630254684

Gene: POLG

Linked Data

• gnomAD v4: 15-89321944-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321944C>G , CM000677.2:g.89321944C>G	GRCh38
NC_000015.9:g.89865175C>G , CM000677.1:g.89865175C>G	GRCh37
NC_000015.8:g.87666179C>G	NCBI36
NG_008218.1:g.17852G>C
NG_008218.2:g.17852G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2480+18G>C	ENSP00000516154.1:n.2480+18G>C
ENST00000268124.11:c.2480+18G>C MANE Select	ENSP00000268124.5:n.2480+18G>C
ENST00000530292.3:c.2081+18G>C	ENSP00000432885.2:n.2081+18G>C
ENST00000635986.2:c.2480+18G>C	ENSP00000490653.2:n.2480+18G>C
ENST00000636774.1:c.*1047+18G>C	ENSP00000489799.1:n.*1047+18G>C
ENST00000637238.1:c.1177+18G>C	ENSP00000490756.1:n.1177+18G>C
ENST00000637264.1:c.1552+18G>C
ENST00000666746.1:c.2057+18G>C
ENST00000670281.1:c.800+18G>C	ENSP00000499709.1:n.800+18G>C
ENST00000672071.1:n.2678+18G>C
ENST00000672923.2:n.2422+18G>C
ENST00000268124.9:c.2480+18G>C	ENSP00000268124.5:n.2480+18G>C
ENST00000442287.6:c.2480+18G>C	ENSP00000399851.2:n.2480+18G>C
ENST00000528881.2:c.196-684G>C
ENST00000530715.5:c.185+798G>C	ENSP00000431395.1:n.185+798G>C
ENST00000532584.5:n.539G>C
ENST00000631044.2:c.*1904+18G>C	ENSP00000486730.1:n.*1904+18G>C
NM_001126131.1:c.2480+18G>C	NP_001119603.1:n.2480+18G>C
NM_002693.2:c.2480+18G>C	NP_002684.1:n.2480+18G>C
NM_001126131.2:c.2480+18G>C	NP_001119603.1:n.2480+18G>C
NM_002693.3:c.2480+18G>C MANE Select	NP_002684.1:n.2480+18G>C