Canonical Allele Identifier: CA2630256345

Gene: POLG

Linked Data

• gnomAD v4: 15-89329243-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89329243C>A , CM000677.2:g.89329243C>A	GRCh38
NC_000015.9:g.89872474C>A , CM000677.1:g.89872474C>A	GRCh37
NC_000015.8:g.87673478C>A	NCBI36
NG_008218.1:g.10553G>T
NG_008218.2:g.10553G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.856-133G>T	ENSP00000516154.1:n.856-133G>T
ENST00000268124.11:c.856-133G>T MANE Select	ENSP00000268124.5:n.856-133G>T
ENST00000530292.3:c.457-133G>T	ENSP00000432885.2:n.457-133G>T
ENST00000635986.2:c.856-133G>T	ENSP00000490653.2:n.856-133G>T
ENST00000636774.1:c.856-133G>T	ENSP00000489799.1:n.856-133G>T
ENST00000666746.1:c.513-133G>T
ENST00000672071.1:n.1054-133G>T
ENST00000268124.9:c.856-133G>T	ENSP00000268124.5:n.856-133G>T
ENST00000442287.6:c.856-133G>T	ENSP00000399851.2:n.856-133G>T
ENST00000631044.2:c.*239-133G>T	ENSP00000486730.1:n.*239-133G>T
NM_001126131.1:c.856-133G>T	NP_001119603.1:n.856-133G>T
NM_002693.2:c.856-133G>T	NP_002684.1:n.856-133G>T
NM_001126131.2:c.856-133G>T	NP_001119603.1:n.856-133G>T
NM_002693.3:c.856-133G>T MANE Select	NP_002684.1:n.856-133G>T