Canonical Allele Identifier: CA274547217

Gene: POLG

Linked Data

• dbSNP Id: rs368188165
• MyVariant Identifiers: chr15:g.89864979G>A (hg19) ; chr15:g.89321748G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321748G>A , CM000677.2:g.89321748G>A	GRCh38
NC_000015.9:g.89864979G>A , CM000677.1:g.89864979G>A	GRCh37
NC_000015.8:g.87665983G>A	NCBI36
NG_008218.1:g.18048C>T
NG_008218.2:g.18048C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2586C>T	ENSP00000516154.1:p.Ala862=
ENST00000268124.11:c.2586C>T MANE Select	ENSP00000268124.5:p.Ala862=
ENST00000530292.3:c.2187C>T	ENSP00000432885.2:p.Ala729=
ENST00000635986.2:c.2586C>T	ENSP00000490653.2:p.Ala862=
ENST00000636774.1:c.*1153C>T	ENSP00000489799.1:n.*1153C>T
ENST00000637238.1:c.1283C>T	ENSP00000490756.1:n.1283C>T
ENST00000637264.1:c.1658C>T
ENST00000666746.1:c.2163C>T
ENST00000670281.1:c.800+214C>T	ENSP00000499709.1:n.800+214C>T
ENST00000672071.1:n.2784C>T
ENST00000672923.2:n.2528C>T
ENST00000268124.9:c.2586C>T	ENSP00000268124.5:p.Ala862=
ENST00000442287.6:c.2586C>T	ENSP00000399851.2:p.Ala862=
ENST00000528881.2:c.196-488C>T
ENST00000530715.5:c.186-879C>T	ENSP00000431395.1:n.186-879C>T
ENST00000631044.2:c.*2010C>T	ENSP00000486730.1:n.*2010C>T
NM_001126131.1:c.2586C>T	NP_001119603.1:p.Ala862=
NM_002693.2:c.2586C>T	NP_002684.1:p.Ala862=
NM_001126131.2:c.2586C>T	NP_001119603.1:p.Ala862=
NM_002693.3:c.2586C>T MANE Select	NP_002684.1:p.Ala862=