Canonical Allele Identifier: CA389587926
Community Standard Title: NM_020937.4(FANCM):c.6010T>A (p.Ser2004Thr)
Gene: FANCM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45199871T>A , CM000676.2:g.45199871T>A GRCh38
NC_000014.8:g.45669074T>A , CM000676.1:g.45669074T>A GRCh37
NC_000014.7:g.44738824T>A NCBI36
NG_007417.1:g.68939T>A , LRG_502:g.68939T>A

Transcript Alleles

HGVS Amino-acid Change
NM_020937.4:c.6010T>A MANE Select NP_065988.1:p.Ser2004Thr
ENST00000267430.10:c.6010T>A MANE Select ENSP00000267430.5:p.Ser2004Thr
NM_001308133.1:c.5932T>A NP_001295062.1:p.Ser1978Thr
NM_001308133.2:c.5932T>A NP_001295062.1:p.Ser1978Thr
NM_020937.2:c.6010T>A , LRG_502t1:c.6010T>A NP_065988.1:p.Ser2004Thr
NM_020937.3:c.6010T>A NP_065988.1:p.Ser2004Thr
ENST00000267430.9:c.6010T>A ENSP00000267430.5:p.Ser2004Thr
ENST00000542564.6:c.5932T>A ENSP00000442493.2:p.Ser1978Thr
ENST00000553551.1:n.503T>A
ENST00000553551.2:n.2210T>A
ENST00000554809.5:c.2912T>A
ENST00000554809.6:c.4327T>A ENSP00000450632.2:p.Ser1443Thr
ENST00000555484.1:c.288T>A ENSP00000450797.1:p.Thr96=
ENST00000555484.2:c.1688T>A
ENST00000556250.5:c.4558T>A ENSP00000452033.1:p.Ser1520Thr
ENST00000556250.6:c.5803T>A ENSP00000452033.2:p.Ser1935Thr
ENST00000557110.1:c.582T>A ENSP00000451846.1:n.582T>A
ENST00000557110.2:c.1700T>A
ENST00000696645.1:n.1900T>A
ENST00000696647.1:c.*243T>A ENSP00000512778.1:n.*243T>A
ENST00000696648.1:c.*4035T>A ENSP00000512779.1:n.*4035T>A
ENST00000696649.1:c.5854T>A ENSP00000512780.1:p.Ser1952Thr
ENST00000696651.1:n.2450T>A
ENST00000696663.1:c.4941T>A
ENST00000696664.1:c.4842T>A
ENST00000696665.1:c.1496T>A
ENST00000696675.1:c.*1766T>A ENSP00000512799.1:n.*1766T>A
ENST00000696683.1:c.4638T>A
ENST00000696684.1:c.4159T>A
ENST00000696685.1:c.4828T>A
ENST00000696686.1:n.2747T>A
XM_011537034.1:c.6025T>A XP_011535336.1:p.Ser2009Thr
XM_011537034.2:c.6025T>A XP_011535336.1:p.Ser2009Thr
XM_011537035.1:c.5947T>A XP_011535337.1:p.Ser1983Thr
XM_011537035.3:c.5947T>A XP_011535337.1:p.Ser1983Thr
XM_011537037.1:c.4039T>A XP_011535339.1:p.Ser1347Thr
XM_011537037.3:c.4039T>A XP_011535339.1:p.Ser1347Thr
XM_017021523.1:c.5357T>A XP_016877012.1:p.Leu1786His
XM_017021524.2:c.5062T>A XP_016877013.1:p.Ser1688Thr
XM_017021525.2:c.4840T>A XP_016877014.1:p.Ser1614Thr
XM_017021526.2:c.4840T>A XP_016877015.1:p.Ser1614Thr
XM_017021527.1:c.4825T>A XP_016877016.1:p.Ser1609Thr
XR_001750470.1:n.5741T>A
XR_001750471.2:n.5726T>A