Canonical Allele Identifier: CA389590764
Community Standard Title: NM_020937.4(FANCM):c.1051-2A>T
Gene: FANCM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45153918A>T , CM000676.2:g.45153918A>T GRCh38
NC_000014.8:g.45623121A>T , CM000676.1:g.45623121A>T GRCh37
NC_000014.7:g.44692871A>T NCBI36
NG_007417.1:g.22986A>T , LRG_502:g.22986A>T

Transcript Alleles

HGVS Amino-acid Change
NM_020937.4:c.1051-2A>T MANE Select NP_065988.1:n.1051-2A>T
ENST00000267430.10:c.1051-2A>T MANE Select ENSP00000267430.5:n.1051-2A>T
NM_001308133.1:c.973-2A>T NP_001295062.1:n.973-2A>T
NM_001308133.2:c.973-2A>T NP_001295062.1:n.973-2A>T
NM_001308134.1:c.1051-2A>T NP_001295063.1:n.1051-2A>T
NM_001308134.2:c.1051-2A>T NP_001295063.1:n.1051-2A>T
NM_020937.2:c.1051-2A>T , LRG_502t1:c.1051-2A>T NP_065988.1:n.1051-2A>T
NM_020937.3:c.1051-2A>T NP_065988.1:n.1051-2A>T
ENST00000267430.9:c.1051-2A>T ENSP00000267430.5:n.1051-2A>T
ENST00000542564.6:c.973-2A>T ENSP00000442493.2:n.973-2A>T
ENST00000556036.5:c.1051-2A>T ENSP00000450596.1:n.1051-2A>T
ENST00000556036.6:c.1051-2A>T ENSP00000450596.1:n.1051-2A>T
ENST00000556250.6:c.1051-2A>T ENSP00000452033.2:n.1051-2A>T
ENST00000696641.1:c.892-2A>T ENSP00000512774.1:n.892-2A>T
ENST00000696642.1:c.1051-779A>T ENSP00000512775.1:n.1051-779A>T
ENST00000696643.1:c.1051-2A>T ENSP00000512776.1:n.1051-2A>T
ENST00000696646.1:c.973-779A>T ENSP00000512777.1:n.973-779A>T
ENST00000696647.1:c.1051-2A>T ENSP00000512778.1:n.1051-2A>T
ENST00000696648.1:c.1051-2A>T ENSP00000512779.1:n.1051-2A>T
ENST00000696649.1:c.1051-2A>T ENSP00000512780.1:n.1051-2A>T
ENST00000696650.1:n.999-2A>T
ENST00000696657.1:c.*269-2A>T ENSP00000512784.1:n.*269-2A>T
ENST00000696658.1:n.1601-2A>T
ENST00000696662.1:c.973-2A>T ENSP00000512788.1:n.973-2A>T
ENST00000696675.1:c.1051-2A>T ENSP00000512799.1:n.1051-2A>T
ENST00000696680.1:c.919-2A>T ENSP00000512803.1:n.919-2A>T
ENST00000696681.1:c.1051-779A>T ENSP00000512804.1:n.1051-779A>T
ENST00000696682.1:c.1051-2A>T ENSP00000512805.1:n.1051-2A>T
XM_011537034.1:c.1051-2A>T XP_011535336.1:n.1051-2A>T
XM_011537034.2:c.1051-2A>T XP_011535336.1:n.1051-2A>T
XM_011537035.1:c.973-2A>T XP_011535337.1:n.973-2A>T
XM_011537035.3:c.973-2A>T XP_011535337.1:n.973-2A>T
XM_011537036.1:c.1051-2A>T XP_011535338.1:n.1051-2A>T
XM_017021523.1:c.1051-2A>T XP_016877012.1:n.1051-2A>T
XM_017021524.2:c.88-2A>T XP_016877013.1:n.88-2A>T
XM_017021525.2:c.-2-779A>T XP_016877014.1:n.-2-779A>T
XM_017021526.2:c.-2-779A>T XP_016877015.1:n.-2-779A>T
XM_017021527.1:c.-2-779A>T XP_016877016.1:n.-2-779A>T
XR_001750470.1:n.1143-2A>T
XR_001750471.2:n.1143-2A>T
XR_001750472.1:n.1143-2A>T