Canonical Allele Identifier: CA389597919
Community Standard Title: NM_020937.4(FANCM):c.2470G>A (p.Gly824Ser)
Gene: FANCM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45175224G>A , CM000676.2:g.45175224G>A GRCh38
NC_000014.8:g.45644427G>A , CM000676.1:g.45644427G>A GRCh37
NC_000014.7:g.44714177G>A NCBI36
NG_007417.1:g.44292G>A , LRG_502:g.44292G>A

Transcript Alleles

HGVS Amino-acid Change
NM_020937.4:c.2470G>A MANE Select NP_065988.1:p.Gly824Ser
ENST00000267430.10:c.2470G>A MANE Select ENSP00000267430.5:p.Gly824Ser
NM_001308133.1:c.2392G>A NP_001295062.1:p.Gly798Ser
NM_001308133.2:c.2392G>A NP_001295062.1:p.Gly798Ser
NM_020937.2:c.2470G>A , LRG_502t1:c.2470G>A NP_065988.1:p.Gly824Ser
NM_020937.3:c.2470G>A NP_065988.1:p.Gly824Ser
ENST00000267430.9:c.2470G>A ENSP00000267430.5:p.Gly824Ser
ENST00000542564.6:c.2392G>A ENSP00000442493.2:p.Gly798Ser
ENST00000554809.6:c.682G>A ENSP00000450632.2:p.Gly228Ser
ENST00000556250.5:c.1018G>A ENSP00000452033.1:p.Gly340Ser
ENST00000556250.6:c.2263G>A ENSP00000452033.2:p.Gly755Ser
ENST00000696641.1:c.2311G>A ENSP00000512774.1:p.Gly771Ser
ENST00000696642.1:c.*1281G>A ENSP00000512775.1:n.*1281G>A
ENST00000696646.1:c.*1281G>A ENSP00000512777.1:n.*1281G>A
ENST00000696647.1:c.2470G>A ENSP00000512778.1:p.Gly824Ser
ENST00000696648.1:c.*495G>A ENSP00000512779.1:n.*495G>A
ENST00000696649.1:c.2314G>A ENSP00000512780.1:p.Gly772Ser
ENST00000696650.1:n.2418G>A
ENST00000696658.1:n.3020G>A
ENST00000696659.1:c.468G>A
ENST00000696663.1:c.1287G>A
ENST00000696664.1:c.1287G>A
ENST00000696675.1:c.2470G>A ENSP00000512799.1:p.Gly824Ser
ENST00000696683.1:c.1287G>A
ENST00000696684.1:c.1287G>A
ENST00000696685.1:c.1287G>A
XM_011537034.1:c.2470G>A XP_011535336.1:p.Gly824Ser
XM_011537034.2:c.2470G>A XP_011535336.1:p.Gly824Ser
XM_011537035.1:c.2392G>A XP_011535337.1:p.Gly798Ser
XM_011537035.3:c.2392G>A XP_011535337.1:p.Gly798Ser
XM_011537036.1:c.2470G>A XP_011535338.1:p.Gly824Ser
XM_011537037.1:c.484G>A XP_011535339.1:p.Gly162Ser
XM_011537037.3:c.484G>A XP_011535339.1:p.Gly162Ser
XM_017021523.1:c.2470G>A XP_016877012.1:p.Gly824Ser
XM_017021524.2:c.1507G>A XP_016877013.1:p.Gly503Ser
XM_017021525.2:c.1285G>A XP_016877014.1:p.Gly429Ser
XM_017021526.2:c.1285G>A XP_016877015.1:p.Gly429Ser
XM_017021527.1:c.1285G>A XP_016877016.1:p.Gly429Ser
XR_001750470.1:n.2562G>A
XR_001750471.2:n.2562G>A
XR_001750472.1:n.2562G>A