Canonical Allele Identifier: CA7724919

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328508C>T , CM000677.2:g.89328508C>T	GRCh38
NC_000015.9:g.89871739C>T , CM000677.1:g.89871739C>T	GRCh37
NC_000015.8:g.87672743C>T	NCBI36
NG_008218.1:g.11288G>A
NG_008218.2:g.11288G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.1198G>A MANE Select	NP_002684.1:p.Val400Met
ENST00000268124.11:c.1198G>A MANE Select	ENSP00000268124.5:p.Val400Met
NM_001126131.1:c.1198G>A	NP_001119603.1:p.Val400Met
NM_001126131.2:c.1198G>A	NP_001119603.1:p.Val400Met
NM_002693.2:c.1198G>A	NP_002684.1:p.Val400Met
ENST00000268124.9:c.1198G>A	ENSP00000268124.5:p.Val400Met
ENST00000442287.6:c.1198G>A	ENSP00000399851.2:p.Val400Met
ENST00000530292.3:c.799G>A	ENSP00000432885.2:p.Val267Met
ENST00000532363.2:n.56G>A
ENST00000631044.2:c.*581G>A	ENSP00000486730.1:n.*581G>A
ENST00000635986.2:c.1198G>A	ENSP00000490653.2:p.Val400Met
ENST00000636774.1:c.1198G>A	ENSP00000489799.1:p.Val400Met
ENST00000636937.2:c.1198G>A	ENSP00000516154.1:p.Val400Met
ENST00000637264.1:c.270G>A
ENST00000666746.1:c.827+177G>A
ENST00000672071.1:n.1396G>A
ENST00000672923.2:n.195G>A