Canonical Allele Identifier: CA2133628632
Community Standard Title: NM_020937.4(FANCM):c.5221A= (p.Thr1741=)
Gene: FANCM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45189243A= , CM000676.2:g.45189243A= GRCh38
NC_000014.8:g.45658446A= , CM000676.1:g.45658446A= GRCh37
NC_000014.7:g.44728196A= NCBI36
NG_007417.1:g.58311A= , LRG_502:g.58311A=

Transcript Alleles

HGVS Amino-acid Change
NM_020937.4:c.5221A= MANE Select NP_065988.1:p.Thr1741=
ENST00000267430.10:c.5221A= MANE Select ENSP00000267430.5:p.Thr1741=
NM_001308133.1:c.5143A= NP_001295062.1:p.Thr1715=
NM_001308133.2:c.5143A= NP_001295062.1:p.Thr1715=
NM_020937.2:c.5221A= , LRG_502t1:c.5221A= NP_065988.1:p.Thr1741=
NM_020937.3:c.5221A= NP_065988.1:p.Thr1741=
ENST00000267430.9:c.5221A= ENSP00000267430.5:p.Thr1741=
ENST00000542564.6:c.5143A= ENSP00000442493.2:p.Thr1715=
ENST00000554809.5:c.2018A=
ENST00000554809.6:c.3433A= ENSP00000450632.2:p.Thr1145=
ENST00000555484.2:c.999A=
ENST00000556250.5:c.3769A= ENSP00000452033.1:p.Thr1257=
ENST00000556250.6:c.5014A= ENSP00000452033.2:p.Thr1672=
ENST00000557110.2:c.999A=
ENST00000696642.1:c.*4032A= ENSP00000512775.1:n.*4032A=
ENST00000696645.1:n.1111A=
ENST00000696647.1:c.5221A= ENSP00000512778.1:p.Thr1741=
ENST00000696648.1:c.*3246A= ENSP00000512779.1:n.*3246A=
ENST00000696649.1:c.5065A= ENSP00000512780.1:p.Thr1689=
ENST00000696650.1:n.5169A=
ENST00000696659.1:c.3219A=
ENST00000696663.1:c.4152A=
ENST00000696664.1:c.4053A=
ENST00000696665.1:c.999A=
ENST00000696675.1:c.*977A= ENSP00000512799.1:n.*977A=
ENST00000696683.1:c.3968+70A=
ENST00000696684.1:c.4038A=
ENST00000696685.1:c.4038A=
ENST00000696686.1:n.1958A=
XM_011537034.1:c.5236A= XP_011535336.1:p.Thr1746=
XM_011537034.2:c.5236A= XP_011535336.1:p.Thr1746=
XM_011537035.1:c.5158A= XP_011535337.1:p.Thr1720=
XM_011537035.3:c.5158A= XP_011535337.1:p.Thr1720=
XM_011537036.1:c.5236A= XP_011535338.1:p.Thr1746=
XM_011537037.1:c.3250A= XP_011535339.1:p.Thr1084=
XM_011537037.3:c.3250A= XP_011535339.1:p.Thr1084=
XM_017021523.1:c.5236A= XP_016877012.1:p.Thr1746=
XM_017021524.2:c.4273A= XP_016877013.1:p.Thr1425=
XM_017021525.2:c.4051A= XP_016877014.1:p.Thr1351=
XM_017021526.2:c.4051A= XP_016877015.1:p.Thr1351=
XM_017021527.1:c.4036A= XP_016877016.1:p.Thr1346=
XR_001750470.1:n.5328A=
XR_001750471.2:n.5313A=