Canonical Allele Identifier: CA7724546

Gene: POLG

Linked Data

• dbSNP Id: rs746626791
• ExAC: 15:89866696 C / A
• gnomAD v2: 15-89866696-C-A
• gnomAD v4: 15-89323465-C-A
• MyVariant Identifiers: chr15:g.89866696C>A (hg19) ; chr15:g.89866696_89866711delinsACATGGTGATAGCTGG (hg19) ; chr15:g.89323465C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323465C>A , CM000677.2:g.89323465C>A	GRCh38
NC_000015.9:g.89866696C>A , CM000677.1:g.89866696C>A	GRCh37
NC_000015.8:g.87667700C>A	NCBI36
NG_008218.1:g.16331G>T
NG_008218.2:g.16331G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2204G>T	ENSP00000516154.1:p.Gly735Val
ENST00000268124.11:c.2204G>T MANE Select	ENSP00000268124.5:p.Gly735Val
ENST00000530292.3:c.1805G>T	ENSP00000432885.2:p.Gly602Val
ENST00000635986.2:c.2204G>T	ENSP00000490653.2:p.Gly735Val
ENST00000636774.1:c.*771G>T	ENSP00000489799.1:n.*771G>T
ENST00000637238.1:c.901G>T	ENSP00000490756.1:n.901G>T
ENST00000637264.1:c.1276G>T
ENST00000666746.1:c.1781G>T
ENST00000670281.1:c.524G>T	ENSP00000499709.1:p.Gly175Val
ENST00000672071.1:n.2402G>T
ENST00000672923.2:n.2307G>T
ENST00000268124.9:c.2204G>T	ENSP00000268124.5:p.Gly735Val
ENST00000442287.6:c.2204G>T	ENSP00000399851.2:p.Gly735Val
ENST00000526314.2:c.539+350G>T
ENST00000526398.1:c.353G>T
ENST00000532584.5:n.406G>T
ENST00000631044.2:c.*1628G>T	ENSP00000486730.1:n.*1628G>T
NM_001126131.1:c.2204G>T	NP_001119603.1:p.Gly735Val
NM_002693.2:c.2204G>T	NP_002684.1:p.Gly735Val
NM_001126131.2:c.2204G>T	NP_001119603.1:p.Gly735Val
NM_002693.3:c.2204G>T MANE Select	NP_002684.1:p.Gly735Val