Canonical Allele Identifier: CA274559855

Gene: POLG

Linked Data

• dbSNP Id: rs376322125
• gnomAD v3: 15-89329889-C-A
• gnomAD v4: 15-89329889-C-A
• MyVariant Identifiers: chr15:g.89873120C>A (hg19) ; chr15:g.89329889C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89329889C>A , CM000677.2:g.89329889C>A	GRCh38
NC_000015.9:g.89873120C>A , CM000677.1:g.89873120C>A	GRCh37
NC_000015.8:g.87674124C>A	NCBI36
NG_008218.1:g.9907G>T
NG_008218.2:g.9907G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.855+192G>T	ENSP00000516154.1:n.855+192G>T
ENST00000268124.11:c.855+192G>T MANE Select	ENSP00000268124.5:n.855+192G>T
ENST00000530292.3:c.456+192G>T	ENSP00000432885.2:n.456+192G>T
ENST00000635986.2:c.855+192G>T	ENSP00000490653.2:n.855+192G>T
ENST00000636774.1:c.855+192G>T	ENSP00000489799.1:n.855+192G>T
ENST00000666746.1:c.512+192G>T
ENST00000672071.1:n.1053+192G>T
ENST00000268124.9:c.855+192G>T	ENSP00000268124.5:n.855+192G>T
ENST00000442287.6:c.855+192G>T	ENSP00000399851.2:n.855+192G>T
ENST00000631044.2:c.*238+192G>T	ENSP00000486730.1:n.*238+192G>T
NM_001126131.1:c.855+192G>T	NP_001119603.1:n.855+192G>T
NM_002693.2:c.855+192G>T	NP_002684.1:n.855+192G>T
NM_001126131.2:c.855+192G>T	NP_001119603.1:n.855+192G>T
NM_002693.3:c.855+192G>T MANE Select	NP_002684.1:n.855+192G>T