Canonical Allele Identifier: CA393765018

Gene: POLG

Linked Data

• ClinVar Variation Id: 2683327
• ClinVar RCV Id: RCV003480147
• dbSNP Id: rs749195383
• gnomAD v4: 15-89328785-G-A
• MyVariant Identifiers: chr15:g.89872016G>A (hg19) ; chr15:g.89328785G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328785G>A , CM000677.2:g.89328785G>A	GRCh38
NC_000015.9:g.89872016G>A , CM000677.1:g.89872016G>A	GRCh37
NC_000015.8:g.87673020G>A	NCBI36
NG_008218.1:g.11011C>T
NG_008218.2:g.11011C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1070C>T	ENSP00000516154.1:p.Ala357Val
ENST00000268124.11:c.1070C>T MANE Select	ENSP00000268124.5:p.Ala357Val
ENST00000530292.3:c.671C>T	ENSP00000432885.2:p.Ala224Val
ENST00000635986.2:c.1070C>T	ENSP00000490653.2:p.Ala357Val
ENST00000636774.1:c.1070C>T	ENSP00000489799.1:p.Ala357Val
ENST00000637264.1:c.142C>T
ENST00000666746.1:c.727C>T
ENST00000672071.1:n.1268C>T
ENST00000672923.2:n.67C>T
ENST00000268124.9:c.1070C>T	ENSP00000268124.5:p.Ala357Val
ENST00000442287.6:c.1070C>T	ENSP00000399851.2:p.Ala357Val
ENST00000631044.2:c.*453C>T	ENSP00000486730.1:n.*453C>T
NM_001126131.1:c.1070C>T	NP_001119603.1:p.Ala357Val
NM_002693.2:c.1070C>T	NP_002684.1:p.Ala357Val
NM_001126131.2:c.1070C>T	NP_001119603.1:p.Ala357Val
NM_002693.3:c.1070C>T MANE Select	NP_002684.1:p.Ala357Val