Canonical Allele Identifier: CA393750560

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318977C>T , CM000677.2:g.89318977C>T	GRCh38
NC_000015.9:g.89862208C>T , CM000677.1:g.89862208C>T	GRCh37
NC_000015.8:g.87663212C>T	NCBI36
NG_008218.1:g.20819G>A
NG_011736.1:g.80015C>T , LRG_500:g.80015C>T
NG_008218.2:g.20819G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.3227G>A MANE Select	NP_002684.1:p.Gly1076Asp
ENST00000268124.11:c.3227G>A MANE Select	ENSP00000268124.5:p.Gly1076Asp
NM_001126131.1:c.3227G>A	NP_001119603.1:p.Gly1076Asp
NM_001126131.2:c.3227G>A	NP_001119603.1:p.Gly1076Asp
NM_002693.2:c.3227G>A	NP_002684.1:p.Gly1076Asp
ENST00000268124.9:c.3227G>A	ENSP00000268124.5:p.Gly1076Asp
ENST00000442287.6:c.3227G>A	ENSP00000399851.2:p.Gly1076Asp
ENST00000530292.2:c.311G>A	ENSP00000432885.1:p.Gly104Asp
ENST00000530292.3:c.2828G>A	ENSP00000432885.2:p.Gly943Asp
ENST00000631044.2:c.*2651G>A	ENSP00000486730.1:n.*2651G>A
ENST00000635986.2:c.*297G>A	ENSP00000490653.2:n.*297G>A
ENST00000636774.1:c.*1794G>A	ENSP00000489799.1:n.*1794G>A
ENST00000636937.2:c.3227G>A	ENSP00000516154.1:p.Gly1076Asp
ENST00000637238.1:c.2036G>A	ENSP00000490756.1:n.2036G>A
ENST00000637264.1:c.2299G>A
ENST00000666746.1:c.2804G>A
ENST00000672071.1:n.3425G>A
ENST00000672695.1:n.404G>A
ENST00000672923.2:n.3227G>A