Canonical Allele Identifier: CA7170000
Community Standard Title: NM_020937.4(FANCM):c.5419A>G (p.Thr1807Ala)
Gene: FANCM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45196250A>G , CM000676.2:g.45196250A>G GRCh38
NC_000014.8:g.45665453A>G , CM000676.1:g.45665453A>G GRCh37
NC_000014.7:g.44735203A>G NCBI36
NG_007417.1:g.65318A>G , LRG_502:g.65318A>G

Transcript Alleles

HGVS Amino-acid Change
NM_020937.4:c.5419A>G MANE Select NP_065988.1:p.Thr1807Ala
ENST00000267430.10:c.5419A>G MANE Select ENSP00000267430.5:p.Thr1807Ala
NM_001308133.1:c.5341A>G NP_001295062.1:p.Thr1781Ala
NM_001308133.2:c.5341A>G NP_001295062.1:p.Thr1781Ala
NM_020937.2:c.5419A>G , LRG_502t1:c.5419A>G NP_065988.1:p.Thr1807Ala
NM_020937.3:c.5419A>G NP_065988.1:p.Thr1807Ala
ENST00000267430.9:c.5419A>G ENSP00000267430.5:p.Thr1807Ala
ENST00000542564.6:c.5341A>G ENSP00000442493.2:p.Thr1781Ala
ENST00000554809.5:c.2321A>G
ENST00000554809.6:c.3736A>G ENSP00000450632.2:p.Thr1246Ala
ENST00000555484.2:c.1197A>G
ENST00000556250.5:c.3967A>G ENSP00000452033.1:p.Thr1323Ala
ENST00000556250.6:c.5212A>G ENSP00000452033.2:p.Thr1738Ala
ENST00000557110.1:c.79A>G ENSP00000451846.1:p.Thr27Ala
ENST00000557110.2:c.1197A>G
ENST00000696645.1:n.1309A>G
ENST00000696647.1:c.5341-2394A>G ENSP00000512778.1:n.5341-2394A>G
ENST00000696648.1:c.*3444A>G ENSP00000512779.1:n.*3444A>G
ENST00000696649.1:c.5263A>G ENSP00000512780.1:p.Thr1755Ala
ENST00000696651.1:n.1859A>G
ENST00000696659.1:c.3339-2394A>G
ENST00000696663.1:c.4350A>G
ENST00000696664.1:c.4251A>G
ENST00000696665.1:c.1197A>G
ENST00000696675.1:c.*1175A>G ENSP00000512799.1:n.*1175A>G
ENST00000696683.1:c.4047A>G
ENST00000696684.1:c.4158-3620A>G
ENST00000696685.1:c.4236A>G
ENST00000696686.1:n.2156A>G
XM_011537034.1:c.5434A>G XP_011535336.1:p.Thr1812Ala
XM_011537034.2:c.5434A>G XP_011535336.1:p.Thr1812Ala
XM_011537035.1:c.5356A>G XP_011535337.1:p.Thr1786Ala
XM_011537035.3:c.5356A>G XP_011535337.1:p.Thr1786Ala
XM_011537036.1:c.5356-2394A>G XP_011535338.1:n.5356-2394A>G
XM_011537037.1:c.3448A>G XP_011535339.1:p.Thr1150Ala
XM_011537037.3:c.3448A>G XP_011535339.1:p.Thr1150Ala
XM_017021523.1:c.5356-3620A>G XP_016877012.1:n.5356-3620A>G
XM_017021524.2:c.4471A>G XP_016877013.1:p.Thr1491Ala
XM_017021525.2:c.4249A>G XP_016877014.1:p.Thr1417Ala
XM_017021526.2:c.4249A>G XP_016877015.1:p.Thr1417Ala
XM_017021527.1:c.4234A>G XP_016877016.1:p.Thr1412Ala
XR_001750470.1:n.5448-2394A>G
XR_001750471.2:n.5433-2394A>G