Canonical Allele Identifier: CA393767021

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89873431G>A (hg19) ; chr15:g.89330200G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330200G>A , CM000677.2:g.89330200G>A	GRCh38
NC_000015.9:g.89873431G>A , CM000677.1:g.89873431G>A	GRCh37
NC_000015.8:g.87674435G>A	NCBI36
NG_008218.1:g.9596C>T
NG_008218.2:g.9596C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.736C>T	ENSP00000516154.1:p.Pro246Ser
ENST00000268124.11:c.736C>T MANE Select	ENSP00000268124.5:p.Pro246Ser
ENST00000530292.3:c.337C>T	ENSP00000432885.2:p.Pro113Ser
ENST00000635986.2:c.736C>T	ENSP00000490653.2:p.Pro246Ser
ENST00000636774.1:c.736C>T	ENSP00000489799.1:p.Pro246Ser
ENST00000666746.1:c.393C>T
ENST00000672071.1:n.934C>T
ENST00000268124.9:c.736C>T	ENSP00000268124.5:p.Pro246Ser
ENST00000442287.6:c.736C>T	ENSP00000399851.2:p.Pro246Ser
ENST00000631044.2:c.*119C>T	ENSP00000486730.1:n.*119C>T
NM_001126131.1:c.736C>T	NP_001119603.1:p.Pro246Ser
NM_002693.2:c.736C>T	NP_002684.1:p.Pro246Ser
NM_001126131.2:c.736C>T	NP_001119603.1:p.Pro246Ser
NM_002693.3:c.736C>T MANE Select	NP_002684.1:p.Pro246Ser