Canonical Allele Identifier: CA972590110

Gene: POLG

Linked Data

• dbSNP Id: rs2055500423
• gnomAD v3: 15-89325354-T-G
• gnomAD v4: 15-89325354-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325354T>G , CM000677.2:g.89325354T>G	GRCh38
NC_000015.9:g.89868585T>G , CM000677.1:g.89868585T>G	GRCh37
NC_000015.8:g.87669589T>G	NCBI36
NG_008218.1:g.14442A>C
NG_008218.2:g.14442A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+96A>C	ENSP00000516154.1:n.1949+96A>C
ENST00000268124.11:c.1949+96A>C MANE Select	ENSP00000268124.5:n.1949+96A>C
ENST00000530292.3:c.1550+96A>C	ENSP00000432885.2:n.1550+96A>C
ENST00000635986.2:c.1949+96A>C	ENSP00000490653.2:n.1949+96A>C
ENST00000636774.1:c.*516+96A>C	ENSP00000489799.1:n.*516+96A>C
ENST00000637238.1:c.646+136A>C	ENSP00000490756.1:n.646+136A>C
ENST00000637264.1:c.1021+96A>C
ENST00000666746.1:c.1526+96A>C
ENST00000670281.1:c.269+96A>C	ENSP00000499709.1:n.269+96A>C
ENST00000672071.1:n.2147+96A>C
ENST00000672923.2:n.2052+96A>C
ENST00000268124.9:c.1949+96A>C	ENSP00000268124.5:n.1949+96A>C
ENST00000442287.6:c.1949+96A>C	ENSP00000399851.2:n.1949+96A>C
ENST00000526314.2:c.331+96A>C
ENST00000526398.1:c.138+96A>C
ENST00000526573.1:n.35+96A>C
ENST00000532584.5:n.151+96A>C
ENST00000631044.2:c.*1332+96A>C	ENSP00000486730.1:n.*1332+96A>C
NM_001126131.1:c.1949+96A>C	NP_001119603.1:n.1949+96A>C
NM_002693.2:c.1949+96A>C	NP_002684.1:n.1949+96A>C
NM_001126131.2:c.1949+96A>C	NP_001119603.1:n.1949+96A>C
NM_002693.3:c.1949+96A>C MANE Select	NP_002684.1:n.1949+96A>C