Canonical Allele Identifier: CA7724949

Gene: POLG

Linked Data

• dbSNP Id: rs760168164
• ExAC: 15:89871963 C / A
• gnomAD v2: 15-89871963-C-A
• gnomAD v4: 15-89328732-C-A
• MyVariant Identifiers: chr15:g.89871963C>A (hg19) ; chr15:g.89328732C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328732C>A , CM000677.2:g.89328732C>A	GRCh38
NC_000015.9:g.89871963C>A , CM000677.1:g.89871963C>A	GRCh37
NC_000015.8:g.87672967C>A	NCBI36
NG_008218.1:g.11064G>T
NG_008218.2:g.11064G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1123G>T	ENSP00000516154.1:p.Glu375Ter
ENST00000268124.11:c.1123G>T MANE Select	ENSP00000268124.5:p.Glu375Ter
ENST00000530292.3:c.724G>T	ENSP00000432885.2:p.Glu242Ter
ENST00000635986.2:c.1123G>T	ENSP00000490653.2:p.Glu375Ter
ENST00000636774.1:c.1123G>T	ENSP00000489799.1:p.Glu375Ter
ENST00000637264.1:c.195G>T
ENST00000666746.1:c.780G>T
ENST00000672071.1:n.1321G>T
ENST00000672923.2:n.120G>T
ENST00000268124.9:c.1123G>T	ENSP00000268124.5:p.Glu375Ter
ENST00000442287.6:c.1123G>T	ENSP00000399851.2:p.Glu375Ter
ENST00000631044.2:c.*506G>T	ENSP00000486730.1:n.*506G>T
NM_001126131.1:c.1123G>T	NP_001119603.1:p.Glu375Ter
NM_002693.2:c.1123G>T	NP_002684.1:p.Glu375Ter
NM_001126131.2:c.1123G>T	NP_001119603.1:p.Glu375Ter
NM_002693.3:c.1123G>T MANE Select	NP_002684.1:p.Glu375Ter