Canonical Allele Identifier: CA389603799

Gene: FANCM

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45176729T>A , CM000676.2:g.45176729T>A	GRCh38
NC_000014.8:g.45645932T>A , CM000676.1:g.45645932T>A	GRCh37
NC_000014.7:g.44715682T>A	NCBI36
NG_007417.1:g.45797T>A , LRG_502:g.45797T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020937.4:c.3975T>A MANE Select	NP_065988.1:p.Tyr1325Ter
ENST00000267430.10:c.3975T>A MANE Select	ENSP00000267430.5:p.Tyr1325Ter
NM_001308133.1:c.3897T>A	NP_001295062.1:p.Tyr1299Ter
NM_001308133.2:c.3897T>A	NP_001295062.1:p.Tyr1299Ter
NM_020937.2:c.3975T>A , LRG_502t1:c.3975T>A	NP_065988.1:p.Tyr1325Ter
NM_020937.3:c.3975T>A	NP_065988.1:p.Tyr1325Ter
ENST00000267430.9:c.3975T>A	ENSP00000267430.5:p.Tyr1325Ter
ENST00000542564.6:c.3897T>A	ENSP00000442493.2:p.Tyr1299Ter
ENST00000554809.5:c.772T>A
ENST00000554809.6:c.2187T>A	ENSP00000450632.2:p.Tyr729Ter
ENST00000556250.5:c.2523T>A	ENSP00000452033.1:p.Tyr841Ter
ENST00000556250.6:c.3768T>A	ENSP00000452033.2:p.Tyr1256Ter
ENST00000696641.1:c.3816T>A	ENSP00000512774.1:p.Tyr1272Ter
ENST00000696642.1:c.*2786T>A	ENSP00000512775.1:n.*2786T>A
ENST00000696646.1:c.*2786T>A	ENSP00000512777.1:n.*2786T>A
ENST00000696647.1:c.3975T>A	ENSP00000512778.1:p.Tyr1325Ter
ENST00000696648.1:c.*2000T>A	ENSP00000512779.1:n.*2000T>A
ENST00000696649.1:c.3819T>A	ENSP00000512780.1:p.Tyr1273Ter
ENST00000696650.1:n.3923T>A
ENST00000696659.1:c.1973T>A
ENST00000696663.1:c.2792T>A
ENST00000696664.1:c.2792T>A
ENST00000696675.1:c.3975T>A	ENSP00000512799.1:p.Tyr1325Ter
ENST00000696683.1:c.2792T>A
ENST00000696684.1:c.2792T>A
ENST00000696685.1:c.2792T>A
XM_011537034.1:c.3975T>A	XP_011535336.1:p.Tyr1325Ter
XM_011537034.2:c.3975T>A	XP_011535336.1:p.Tyr1325Ter
XM_011537035.1:c.3897T>A	XP_011535337.1:p.Tyr1299Ter
XM_011537035.3:c.3897T>A	XP_011535337.1:p.Tyr1299Ter
XM_011537036.1:c.3975T>A	XP_011535338.1:p.Tyr1325Ter
XM_011537037.1:c.1989T>A	XP_011535339.1:p.Tyr663Ter
XM_011537037.3:c.1989T>A	XP_011535339.1:p.Tyr663Ter
XM_017021523.1:c.3975T>A	XP_016877012.1:p.Tyr1325Ter
XM_017021524.2:c.3012T>A	XP_016877013.1:p.Tyr1004Ter
XM_017021525.2:c.2790T>A	XP_016877014.1:p.Tyr930Ter
XM_017021526.2:c.2790T>A	XP_016877015.1:p.Tyr930Ter
XM_017021527.1:c.2790T>A	XP_016877016.1:p.Tyr930Ter
XR_001750470.1:n.4067T>A
XR_001750471.2:n.4067T>A
XR_001750472.1:n.4067T>A