Canonical Allele Identifier: CA2194536608

Gene: POLG FANCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89316403G= , CM000677.2:g.89316403G=	GRCh38
NC_000015.9:g.89859634G= , CM000677.1:g.89859634G=	GRCh37
NC_000015.8:g.87660638G=	NCBI36
NG_008218.1:g.23393C=
NG_011736.1:g.77441G= , LRG_500:g.77441G=
NG_008218.2:g.23393C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.*348C= (POLG)	ENSP00000516154.1:n.*348C=
ENST00000696717.1:c.3652G= (FANCI)	ENSP00000512830.1:p.Ala1218=
ENST00000696718.1:c.3394G= (FANCI)	ENSP00000512831.1:p.Ala1132=
ENST00000696719.1:c.3931G= (FANCI)	ENSP00000512832.1:p.Ala1311=
ENST00000696721.1:n.5516G= (FANCI)
ENST00000268124.11:c.*348C= (POLG) MANE Select	ENSP00000268124.5:n.*348C=
ENST00000310775.12:c.3931G= (FANCI) MANE Select	ENSP00000310842.8:p.Ala1311=
ENST00000530292.3:c.3768C= (POLG)	ENSP00000432885.2:n.3768C=
ENST00000635831.1:c.73+303C= (POLG)
ENST00000635986.2:c.*1138C= (POLG)	ENSP00000490653.2:n.*1138C=
ENST00000637238.1:c.2976C= (POLG)	ENSP00000490756.1:n.2976C=
ENST00000637264.1:c.3080C= (POLG)
ENST00000666746.1:c.3645C= (POLG)
ENST00000672071.1:n.5270C= (POLG)
ENST00000672695.1:n.1847C= (POLG)
ENST00000672923.2:n.4068C= (POLG)
ENST00000674831.1:c.4063G= (FANCI)	ENSP00000502474.1:p.Ala1355=
ENST00000675352.1:n.3136G= (FANCI)
ENST00000676003.1:c.3889G= (FANCI)	ENSP00000502254.1:p.Ala1297=
ENST00000676110.1:n.3512G= (FANCI)
ENST00000268124.9:c.*348C= (POLG)	ENSP00000268124.5:n.*348C=
ENST00000300027.12:c.3751G= (FANCI)	ENSP00000300027.8:p.Ala1251=
ENST00000310775.11:c.3931G= (FANCI)	ENSP00000310842.7:p.Ala1311=
ENST00000442287.6:c.*348C= (POLG)	ENSP00000399851.2:n.*348C=
ENST00000447611.6:c.*275G= (FANCI)	ENSP00000413249.2:n.*275G=
ENST00000530292.2:c.1251C= (POLG)	ENSP00000432885.1:n.1251C=
ENST00000561894.1:c.3227G= (FANCI)
ENST00000566615.1:n.514G= (FANCI)
ENST00000566895.5:n.3938G= (FANCI)
ENST00000631044.2:c.*3492C= (POLG)	ENSP00000486730.1:n.*3492C=
NM_001113378.1:c.3931G= , LRG_500t1:c.3931G= (FANCI)	NP_001106849.1:p.Ala1311=
NM_001126131.1:c.*348C= (POLG)	NP_001119603.1:n.*348C=
NM_002693.2:c.*348C= (POLG)	NP_002684.1:n.*348C=
NM_018193.2:c.3751G= (FANCI)	NP_060663.2:p.Ala1251=
XM_011521756.1:c.3931G= (FANCI)	XP_011520058.1:p.Ala1311=
XM_011521757.1:c.3931G= (FANCI)	XP_011520059.1:p.Ala1311=
XM_011521758.1:c.3931G= (FANCI)	XP_011520060.1:p.Ala1311=
XM_011521759.1:c.3931G= (FANCI)	XP_011520061.1:p.Ala1311=
XM_011521760.1:c.3931G= (FANCI)	XP_011520062.1:p.Ala1311=
XM_011521761.1:c.3931G= (FANCI)	XP_011520063.1:p.Ala1311=
XM_011521762.1:c.3931G= (FANCI)	XP_011520064.1:p.Ala1311=
XM_011521763.1:c.3889G= (FANCI)	XP_011520065.1:p.Ala1297=
XM_011521764.1:c.3751G= (FANCI)	XP_011520066.1:p.Ala1251=
XM_011521765.1:c.3652G= (FANCI)	XP_011520067.1:p.Ala1218=
XM_011521766.1:c.3652G= (FANCI)	XP_011520068.1:p.Ala1218=
XM_011521767.1:c.3652G= (FANCI)	XP_011520069.1:p.Ala1218=
XM_011521769.1:c.3586G= (FANCI)	XP_011520071.1:p.Ala1196=
XM_011521756.2:c.3931G= (FANCI)	XP_011520058.1:p.Ala1311=
XM_011521757.2:c.3931G= (FANCI)	XP_011520059.1:p.Ala1311=
XM_011521764.2:c.3751G= (FANCI)	XP_011520066.1:p.Ala1251=
XM_011521767.2:c.3652G= (FANCI)	XP_011520069.1:p.Ala1218=
NM_001113378.2:c.3931G= (FANCI) MANE Select	NP_001106849.1:p.Ala1311=
NM_001126131.2:c.*348C= (POLG)	NP_001119603.1:n.*348C=
NM_001376910.1:c.3652G= (FANCI)	NP_001363839.1:p.Ala1218=
NM_001376911.1:c.3931G= (FANCI)	NP_001363840.1:p.Ala1311=
NM_018193.3:c.3751G= (FANCI)	NP_060663.2:p.Ala1251=
NM_002693.3:c.*348C= (POLG) MANE Select	NP_002684.1:n.*348C=