Canonical Allele Identifier: CA393765157

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89872040T>C (hg19) ; chr15:g.89328809T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328809T>C , CM000677.2:g.89328809T>C	GRCh38
NC_000015.9:g.89872040T>C , CM000677.1:g.89872040T>C	GRCh37
NC_000015.8:g.87673044T>C	NCBI36
NG_008218.1:g.10987A>G
NG_008218.2:g.10987A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1046A>G	ENSP00000516154.1:p.Asp349Gly
ENST00000268124.11:c.1046A>G MANE Select	ENSP00000268124.5:p.Asp349Gly
ENST00000530292.3:c.647A>G	ENSP00000432885.2:p.Asp216Gly
ENST00000635986.2:c.1046A>G	ENSP00000490653.2:p.Asp349Gly
ENST00000636774.1:c.1046A>G	ENSP00000489799.1:p.Asp349Gly
ENST00000637264.1:c.118A>G
ENST00000666746.1:c.703A>G
ENST00000672071.1:n.1244A>G
ENST00000672923.2:n.43A>G
ENST00000268124.9:c.1046A>G	ENSP00000268124.5:p.Asp349Gly
ENST00000442287.6:c.1046A>G	ENSP00000399851.2:p.Asp349Gly
ENST00000631044.2:c.*429A>G	ENSP00000486730.1:n.*429A>G
NM_001126131.1:c.1046A>G	NP_001119603.1:p.Asp349Gly
NM_002693.2:c.1046A>G	NP_002684.1:p.Asp349Gly
NM_001126131.2:c.1046A>G	NP_001119603.1:p.Asp349Gly
NM_002693.3:c.1046A>G MANE Select	NP_002684.1:p.Asp349Gly