Canonical Allele Identifier: CA972590875

Gene: POLG

Linked Data

• dbSNP Id: rs1288358944
• gnomAD v3: 15-89326841-G-A
• gnomAD v4: 15-89326841-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89326841G>A , CM000677.2:g.89326841G>A	GRCh38
NC_000015.9:g.89870072G>A , CM000677.1:g.89870072G>A	GRCh37
NC_000015.8:g.87671076G>A	NCBI36
NG_008218.1:g.12955C>T
NG_008218.2:g.12955C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1585+71C>T	ENSP00000516154.1:n.1585+71C>T
ENST00000268124.11:c.1585+71C>T MANE Select	ENSP00000268124.5:n.1585+71C>T
ENST00000530292.3:c.1186+71C>T	ENSP00000432885.2:n.1186+71C>T
ENST00000635986.2:c.1585+71C>T	ENSP00000490653.2:n.1585+71C>T
ENST00000636774.1:c.*152+71C>T	ENSP00000489799.1:n.*152+71C>T
ENST00000637238.1:c.322+71C>T	ENSP00000490756.1:n.322+71C>T
ENST00000637264.1:c.657+71C>T
ENST00000666746.1:c.1162+71C>T
ENST00000672071.1:n.1783+71C>T
ENST00000672923.2:n.1688+71C>T
ENST00000268124.9:c.1585+71C>T	ENSP00000268124.5:n.1585+71C>T
ENST00000442287.6:c.1585+71C>T	ENSP00000399851.2:n.1585+71C>T
ENST00000631044.2:c.*968+71C>T	ENSP00000486730.1:n.*968+71C>T
NM_001126131.1:c.1585+71C>T	NP_001119603.1:n.1585+71C>T
NM_002693.2:c.1585+71C>T	NP_002684.1:n.1585+71C>T
NM_001126131.2:c.1585+71C>T	NP_001119603.1:n.1585+71C>T
NM_002693.3:c.1585+71C>T MANE Select	NP_002684.1:n.1585+71C>T