Canonical Allele Identifier: CA7724675

Gene: POLG

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325549C>T , CM000677.2:g.89325549C>T	GRCh38
NC_000015.9:g.89868780C>T , CM000677.1:g.89868780C>T	GRCh37
NC_000015.8:g.87669784C>T	NCBI36
NG_008218.1:g.14247G>A
NG_008218.2:g.14247G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1850G>A	ENSP00000516154.1:p.Arg617His
ENST00000268124.11:c.1850G>A MANE Select	ENSP00000268124.5:p.Arg617His
ENST00000530292.3:c.1451G>A	ENSP00000432885.2:p.Arg484His
ENST00000635986.2:c.1850G>A	ENSP00000490653.2:p.Arg617His
ENST00000636774.1:c.*417G>A	ENSP00000489799.1:n.*417G>A
ENST00000637238.1:c.587G>A	ENSP00000490756.1:p.Arg196His
ENST00000637264.1:c.922G>A
ENST00000666746.1:c.1427G>A
ENST00000670281.1:c.170G>A	ENSP00000499709.1:p.Arg57His
ENST00000672071.1:n.2048G>A
ENST00000672923.2:n.1953G>A
ENST00000268124.9:c.1850G>A	ENSP00000268124.5:p.Arg617His
ENST00000442287.6:c.1850G>A	ENSP00000399851.2:p.Arg617His
ENST00000526314.2:c.232G>A
ENST00000526398.1:c.39G>A
ENST00000532584.5:n.52G>A
ENST00000631044.2:c.*1233G>A	ENSP00000486730.1:n.*1233G>A
NM_001126131.1:c.1850G>A	NP_001119603.1:p.Arg617His
NM_002693.2:c.1850G>A	NP_002684.1:p.Arg617His
NM_001126131.2:c.1850G>A	NP_001119603.1:p.Arg617His
NM_002693.3:c.1850G>A MANE Select	NP_002684.1:p.Arg617His