Canonical Allele Identifier: CA492289176

Gene: POLG

Linked Data

• gnomAD v4: 15-89325461-G-A
• MyVariant Identifiers: chr15:g.89868692G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325461G>A , CM000677.2:g.89325461G>A	GRCh38
NC_000015.9:g.89868692G>A , CM000677.1:g.89868692G>A	GRCh37
NC_000015.8:g.87669696G>A	NCBI36
NG_008218.1:g.14335C>T
NG_008218.2:g.14335C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1938C>T	ENSP00000516154.1:p.Val646=
ENST00000268124.11:c.1938C>T MANE Select	ENSP00000268124.5:p.Val646=
ENST00000530292.3:c.1539C>T	ENSP00000432885.2:p.Val513=
ENST00000635986.2:c.1938C>T	ENSP00000490653.2:p.Val646=
ENST00000636774.1:c.*505C>T	ENSP00000489799.1:n.*505C>T
ENST00000637238.1:c.646+29C>T	ENSP00000490756.1:n.646+29C>T
ENST00000637264.1:c.1010C>T
ENST00000666746.1:c.1515C>T
ENST00000670281.1:c.258C>T	ENSP00000499709.1:p.Val86=
ENST00000672071.1:n.2136C>T
ENST00000672923.2:n.2041C>T
ENST00000268124.9:c.1938C>T	ENSP00000268124.5:p.Val646=
ENST00000442287.6:c.1938C>T	ENSP00000399851.2:p.Val646=
ENST00000526314.2:c.320C>T
ENST00000526398.1:c.127C>T
ENST00000526573.1:n.24C>T
ENST00000532584.5:n.140C>T
ENST00000631044.2:c.*1321C>T	ENSP00000486730.1:n.*1321C>T
NM_001126131.1:c.1938C>T	NP_001119603.1:p.Val646=
NM_002693.2:c.1938C>T	NP_002684.1:p.Val646=
NM_001126131.2:c.1938C>T	NP_001119603.1:p.Val646=
NM_002693.3:c.1938C>T MANE Select	NP_002684.1:p.Val646=