Canonical Allele Identifier: CA2630255759

Gene: POLG

Linked Data

• gnomAD v4: 15-89323615-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323615C>G , CM000677.2:g.89323615C>G	GRCh38
NC_000015.9:g.89866846C>G , CM000677.1:g.89866846C>G	GRCh37
NC_000015.8:g.87667850C>G	NCBI36
NG_008218.1:g.16181G>C
NG_008218.2:g.16181G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2158-104G>C	ENSP00000516154.1:n.2158-104G>C
ENST00000268124.11:c.2158-104G>C MANE Select	ENSP00000268124.5:n.2158-104G>C
ENST00000530292.3:c.1759-104G>C	ENSP00000432885.2:n.1759-104G>C
ENST00000635986.2:c.2158-104G>C	ENSP00000490653.2:n.2158-104G>C
ENST00000636774.1:c.*725-104G>C	ENSP00000489799.1:n.*725-104G>C
ENST00000637238.1:c.855-104G>C	ENSP00000490756.1:n.855-104G>C
ENST00000637264.1:c.1230-104G>C
ENST00000666746.1:c.1735-104G>C
ENST00000670281.1:c.478-104G>C	ENSP00000499709.1:n.478-104G>C
ENST00000672071.1:n.2356-104G>C
ENST00000672923.2:n.2261-104G>C
ENST00000268124.9:c.2158-104G>C	ENSP00000268124.5:n.2158-104G>C
ENST00000442287.6:c.2158-104G>C	ENSP00000399851.2:n.2158-104G>C
ENST00000526314.2:c.539+200G>C
ENST00000526398.1:c.307-104G>C
ENST00000526573.1:n.443G>C
ENST00000532584.5:n.360-104G>C
ENST00000533857.1:n.472G>C
ENST00000631044.2:c.*1541-63G>C	ENSP00000486730.1:n.*1541-63G>C
NM_001126131.1:c.2158-104G>C	NP_001119603.1:n.2158-104G>C
NM_002693.2:c.2158-104G>C	NP_002684.1:n.2158-104G>C
NM_001126131.2:c.2158-104G>C	NP_001119603.1:n.2158-104G>C
NM_002693.3:c.2158-104G>C MANE Select	NP_002684.1:n.2158-104G>C