Canonical Allele Identifier: CA2194550124

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325527C= , CM000677.2:g.89325527C=	GRCh38
NC_000015.9:g.89868758C= , CM000677.1:g.89868758C=	GRCh37
NC_000015.8:g.87669762C=	NCBI36
NG_008218.1:g.14269G=
NG_008218.2:g.14269G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1872G=	ENSP00000516154.1:p.Val624=
ENST00000268124.11:c.1872G= MANE Select	ENSP00000268124.5:p.Val624=
ENST00000530292.3:c.1473G=	ENSP00000432885.2:p.Val491=
ENST00000635986.2:c.1872G=	ENSP00000490653.2:p.Val624=
ENST00000636774.1:c.*439G=	ENSP00000489799.1:n.*439G=
ENST00000637238.1:c.609G=	ENSP00000490756.1:p.Val203=
ENST00000637264.1:c.944G=
ENST00000666746.1:c.1449G=
ENST00000670281.1:c.192G=	ENSP00000499709.1:p.Val64=
ENST00000672071.1:n.2070G=
ENST00000672923.2:n.1975G=
ENST00000268124.9:c.1872G=	ENSP00000268124.5:p.Val624=
ENST00000442287.6:c.1872G=	ENSP00000399851.2:p.Val624=
ENST00000526314.2:c.254G=
ENST00000526398.1:c.61G=
ENST00000532584.5:n.74G=
ENST00000631044.2:c.*1255G=	ENSP00000486730.1:n.*1255G=
NM_001126131.1:c.1872G=	NP_001119603.1:p.Val624=
NM_002693.2:c.1872G=	NP_002684.1:p.Val624=
NM_001126131.2:c.1872G=	NP_001119603.1:p.Val624=
NM_002693.3:c.1872G= MANE Select	NP_002684.1:p.Val624=