Canonical Allele Identifier: CA274537851

Linked Data

dbSNP Id: rs754573704

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.*348C>T (POLG) ENSP00000516154.1:n.*348C>T
ENST00000696717.1:c.3652G>A (FANCI) ENSP00000512830.1:p.Ala1218Thr
ENST00000696718.1:c.3394G>A (FANCI) ENSP00000512831.1:p.Ala1132Thr
ENST00000696719.1:c.3931G>A (FANCI) ENSP00000512832.1:p.Ala1311Thr
ENST00000696721.1:n.5516G>A (FANCI)
ENST00000268124.11:c.*348C>T (POLG) MANE Select ENSP00000268124.5:n.*348C>T
ENST00000310775.12:c.3931G>A (FANCI) MANE Select ENSP00000310842.8:p.Ala1311Thr
ENST00000530292.3:c.3768C>T (POLG) ENSP00000432885.2:n.3768C>T
ENST00000635831.1:c.73+303C>T (POLG)
ENST00000635986.2:c.*1138C>T (POLG) ENSP00000490653.2:n.*1138C>T
ENST00000637238.1:c.2976C>T (POLG) ENSP00000490756.1:n.2976C>T
ENST00000637264.1:c.3080C>T (POLG)
ENST00000666746.1:c.3645C>T (POLG)
ENST00000672071.1:n.5270C>T (POLG)
ENST00000672695.1:n.1847C>T (POLG)
ENST00000672923.2:n.4068C>T (POLG)
ENST00000674831.1:c.4063G>A (FANCI) ENSP00000502474.1:p.Ala1355Thr
ENST00000675352.1:n.3136G>A (FANCI)
ENST00000676003.1:c.3889G>A (FANCI) ENSP00000502254.1:p.Ala1297Thr
ENST00000676110.1:n.3512G>A (FANCI)
ENST00000268124.9:c.*348C>T (POLG) ENSP00000268124.5:n.*348C>T
ENST00000300027.12:c.3751G>A (FANCI) ENSP00000300027.8:p.Ala1251Thr
ENST00000310775.11:c.3931G>A (FANCI) ENSP00000310842.7:p.Ala1311Thr
ENST00000442287.6:c.*348C>T (POLG) ENSP00000399851.2:n.*348C>T
ENST00000447611.6:c.*275G>A (FANCI) ENSP00000413249.2:n.*275G>A
ENST00000530292.2:c.1251C>T (POLG) ENSP00000432885.1:n.1251C>T
ENST00000561894.1:c.3227G>A (FANCI)
ENST00000566615.1:n.514G>A (FANCI)
ENST00000566895.5:n.3938G>A (FANCI)
ENST00000631044.2:c.*3492C>T (POLG) ENSP00000486730.1:n.*3492C>T
NM_001113378.1:c.3931G>A , LRG_500t1:c.3931G>A (FANCI) NP_001106849.1:p.Ala1311Thr
NM_001126131.1:c.*348C>T (POLG) NP_001119603.1:n.*348C>T
NM_002693.2:c.*348C>T (POLG) NP_002684.1:n.*348C>T
NM_018193.2:c.3751G>A (FANCI) NP_060663.2:p.Ala1251Thr
XM_011521756.1:c.3931G>A (FANCI) XP_011520058.1:p.Ala1311Thr
XM_011521757.1:c.3931G>A (FANCI) XP_011520059.1:p.Ala1311Thr
XM_011521758.1:c.3931G>A (FANCI) XP_011520060.1:p.Ala1311Thr
XM_011521759.1:c.3931G>A (FANCI) XP_011520061.1:p.Ala1311Thr
XM_011521760.1:c.3931G>A (FANCI) XP_011520062.1:p.Ala1311Thr
XM_011521761.1:c.3931G>A (FANCI) XP_011520063.1:p.Ala1311Thr
XM_011521762.1:c.3931G>A (FANCI) XP_011520064.1:p.Ala1311Thr
XM_011521763.1:c.3889G>A (FANCI) XP_011520065.1:p.Ala1297Thr
XM_011521764.1:c.3751G>A (FANCI) XP_011520066.1:p.Ala1251Thr
XM_011521765.1:c.3652G>A (FANCI) XP_011520067.1:p.Ala1218Thr
XM_011521766.1:c.3652G>A (FANCI) XP_011520068.1:p.Ala1218Thr
XM_011521767.1:c.3652G>A (FANCI) XP_011520069.1:p.Ala1218Thr
XM_011521769.1:c.3586G>A (FANCI) XP_011520071.1:p.Ala1196Thr
XM_011521756.2:c.3931G>A (FANCI) XP_011520058.1:p.Ala1311Thr
XM_011521757.2:c.3931G>A (FANCI) XP_011520059.1:p.Ala1311Thr
XM_011521764.2:c.3751G>A (FANCI) XP_011520066.1:p.Ala1251Thr
XM_011521767.2:c.3652G>A (FANCI) XP_011520069.1:p.Ala1218Thr
NM_001113378.2:c.3931G>A (FANCI) MANE Select NP_001106849.1:p.Ala1311Thr
NM_001126131.2:c.*348C>T (POLG) NP_001119603.1:n.*348C>T
NM_001376910.1:c.3652G>A (FANCI) NP_001363839.1:p.Ala1218Thr
NM_001376911.1:c.3931G>A (FANCI) NP_001363840.1:p.Ala1311Thr
NM_018193.3:c.3751G>A (FANCI) NP_060663.2:p.Ala1251Thr
NM_002693.3:c.*348C>T (POLG) MANE Select NP_002684.1:n.*348C>T