Canonical Allele Identifier: CA274559173

Gene: POLG

Linked Data

• dbSNP Id: rs41551922
• gnomAD v2: 15-89872483-C-T
• gnomAD v3: 15-89329252-C-T
• gnomAD v4: 15-89329252-C-T
• MyVariant Identifiers: chr15:g.89872483C>T (hg19) ; chr15:g.89329252C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89329252C>T , CM000677.2:g.89329252C>T	GRCh38
NC_000015.9:g.89872483C>T , CM000677.1:g.89872483C>T	GRCh37
NC_000015.8:g.87673487C>T	NCBI36
NG_008218.1:g.10544G>A
NG_008218.2:g.10544G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.856-142G>A	ENSP00000516154.1:n.856-142G>A
ENST00000268124.11:c.856-142G>A MANE Select	ENSP00000268124.5:n.856-142G>A
ENST00000530292.3:c.457-142G>A	ENSP00000432885.2:n.457-142G>A
ENST00000635986.2:c.856-142G>A	ENSP00000490653.2:n.856-142G>A
ENST00000636774.1:c.856-142G>A	ENSP00000489799.1:n.856-142G>A
ENST00000666746.1:c.513-142G>A
ENST00000672071.1:n.1054-142G>A
ENST00000268124.9:c.856-142G>A	ENSP00000268124.5:n.856-142G>A
ENST00000442287.6:c.856-142G>A	ENSP00000399851.2:n.856-142G>A
ENST00000631044.2:c.*239-142G>A	ENSP00000486730.1:n.*239-142G>A
NM_001126131.1:c.856-142G>A	NP_001119603.1:n.856-142G>A
NM_002693.2:c.856-142G>A	NP_002684.1:n.856-142G>A
NM_001126131.2:c.856-142G>A	NP_001119603.1:n.856-142G>A
NM_002693.3:c.856-142G>A MANE Select	NP_002684.1:n.856-142G>A