Canonical Allele Identifier: CA2194536495

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89316369T= , CM000677.2:g.89316369T= GRCh38
NC_000015.9:g.89859600T= , CM000677.1:g.89859600T= GRCh37
NC_000015.8:g.87660604T= NCBI36
NG_008218.1:g.23427A=
NG_011736.1:g.77407T= , LRG_500:g.77407T=
NG_008218.2:g.23427A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.*382A= (POLG) ENSP00000516154.1:n.*382A=
ENST00000696717.1:c.3646-28T= (FANCI) ENSP00000512830.1:n.3646-28T=
ENST00000696718.1:c.3388-28T= (FANCI) ENSP00000512831.1:n.3388-28T=
ENST00000696719.1:c.3925-28T= (FANCI) ENSP00000512832.1:n.3925-28T=
ENST00000696721.1:n.5510-28T= (FANCI)
ENST00000268124.11:c.*382A= (POLG) MANE Select ENSP00000268124.5:n.*382A=
ENST00000310775.12:c.3925-28T= (FANCI) MANE Select ENSP00000310842.8:n.3925-28T=
ENST00000530292.3:c.3802A= (POLG) ENSP00000432885.2:n.3802A=
ENST00000635831.1:c.73+337A= (POLG)
ENST00000635986.2:c.*1172A= (POLG) ENSP00000490653.2:n.*1172A=
ENST00000637238.1:c.3010A= (POLG) ENSP00000490756.1:n.3010A=
ENST00000637264.1:c.3114A= (POLG)
ENST00000666746.1:c.3679A= (POLG)
ENST00000672071.1:n.5304A= (POLG)
ENST00000672695.1:n.1881A= (POLG)
ENST00000672923.2:n.4102A= (POLG)
ENST00000674831.1:c.4057-28T= (FANCI) ENSP00000502474.1:n.4057-28T=
ENST00000675352.1:n.3130-28T= (FANCI)
ENST00000676003.1:c.3883-28T= (FANCI) ENSP00000502254.1:n.3883-28T=
ENST00000676110.1:n.3506-28T= (FANCI)
ENST00000268124.9:c.*382A= (POLG) ENSP00000268124.5:n.*382A=
ENST00000300027.12:c.3745-28T= (FANCI) ENSP00000300027.8:n.3745-28T=
ENST00000310775.11:c.3925-28T= (FANCI) ENSP00000310842.7:n.3925-28T=
ENST00000442287.6:c.*382A= (POLG) ENSP00000399851.2:n.*382A=
ENST00000447611.6:c.*269-28T= (FANCI) ENSP00000413249.2:n.*269-28T=
ENST00000530292.2:c.1285A= (POLG) ENSP00000432885.1:n.1285A=
ENST00000561894.1:c.3221-28T= (FANCI)
ENST00000566615.1:n.508-28T= (FANCI)
ENST00000566895.5:n.3932-28T= (FANCI)
ENST00000631044.2:c.*3526A= (POLG) ENSP00000486730.1:n.*3526A=
NM_001113378.1:c.3925-28T= , LRG_500t1:c.3925-28T= (FANCI) NP_001106849.1:n.3925-28T=
NM_001126131.1:c.*382A= (POLG) NP_001119603.1:n.*382A=
NM_002693.2:c.*382A= (POLG) NP_002684.1:n.*382A=
NM_018193.2:c.3745-28T= (FANCI) NP_060663.2:n.3745-28T=
XM_011521756.1:c.3925-28T= (FANCI) XP_011520058.1:n.3925-28T=
XM_011521757.1:c.3925-28T= (FANCI) XP_011520059.1:n.3925-28T=
XM_011521758.1:c.3925-28T= (FANCI) XP_011520060.1:n.3925-28T=
XM_011521759.1:c.3925-28T= (FANCI) XP_011520061.1:n.3925-28T=
XM_011521760.1:c.3925-28T= (FANCI) XP_011520062.1:n.3925-28T=
XM_011521761.1:c.3925-28T= (FANCI) XP_011520063.1:n.3925-28T=
XM_011521762.1:c.3925-28T= (FANCI) XP_011520064.1:n.3925-28T=
XM_011521763.1:c.3883-28T= (FANCI) XP_011520065.1:n.3883-28T=
XM_011521764.1:c.3745-28T= (FANCI) XP_011520066.1:n.3745-28T=
XM_011521765.1:c.3646-28T= (FANCI) XP_011520067.1:n.3646-28T=
XM_011521766.1:c.3646-28T= (FANCI) XP_011520068.1:n.3646-28T=
XM_011521767.1:c.3646-28T= (FANCI) XP_011520069.1:n.3646-28T=
XM_011521769.1:c.3580-28T= (FANCI) XP_011520071.1:n.3580-28T=
XM_011521756.2:c.3925-28T= (FANCI) XP_011520058.1:n.3925-28T=
XM_011521757.2:c.3925-28T= (FANCI) XP_011520059.1:n.3925-28T=
XM_011521764.2:c.3745-28T= (FANCI) XP_011520066.1:n.3745-28T=
XM_011521767.2:c.3646-28T= (FANCI) XP_011520069.1:n.3646-28T=
NM_001113378.2:c.3925-28T= (FANCI) MANE Select NP_001106849.1:n.3925-28T=
NM_001126131.2:c.*382A= (POLG) NP_001119603.1:n.*382A=
NM_001376910.1:c.3646-28T= (FANCI) NP_001363839.1:n.3646-28T=
NM_001376911.1:c.3925-28T= (FANCI) NP_001363840.1:n.3925-28T=
NM_018193.3:c.3745-28T= (FANCI) NP_060663.2:n.3745-28T=
NM_002693.3:c.*382A= (POLG) MANE Select NP_002684.1:n.*382A=