Canonical Allele Identifier: CA389596047

Gene: FANCM

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45170662T>A , CM000676.2:g.45170662T>A	GRCh38
NC_000014.8:g.45639865T>A , CM000676.1:g.45639865T>A	GRCh37
NC_000014.7:g.44709615T>A	NCBI36
NG_007417.1:g.39730T>A , LRG_502:g.39730T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020937.4:c.2076T>A MANE Select	NP_065988.1:p.Tyr692Ter
ENST00000267430.10:c.2076T>A MANE Select	ENSP00000267430.5:p.Tyr692Ter
NM_001308133.1:c.1998T>A	NP_001295062.1:p.Tyr666Ter
NM_001308133.2:c.1998T>A	NP_001295062.1:p.Tyr666Ter
NM_020937.2:c.2076T>A , LRG_502t1:c.2076T>A	NP_065988.1:p.Tyr692Ter
NM_020937.3:c.2076T>A	NP_065988.1:p.Tyr692Ter
ENST00000267430.9:c.2076T>A	ENSP00000267430.5:p.Tyr692Ter
ENST00000542564.6:c.1998T>A	ENSP00000442493.2:p.Tyr666Ter
ENST00000554809.6:c.288T>A	ENSP00000450632.2:p.Tyr96Ter
ENST00000556250.5:c.624T>A	ENSP00000452033.1:p.Tyr208Ter
ENST00000556250.6:c.1869T>A	ENSP00000452033.2:p.Tyr623Ter
ENST00000696641.1:c.1917T>A	ENSP00000512774.1:p.Tyr639Ter
ENST00000696642.1:c.*887T>A	ENSP00000512775.1:n.*887T>A
ENST00000696646.1:c.*887T>A	ENSP00000512777.1:n.*887T>A
ENST00000696647.1:c.2076T>A	ENSP00000512778.1:p.Tyr692Ter
ENST00000696648.1:c.*101T>A	ENSP00000512779.1:n.*101T>A
ENST00000696649.1:c.2076T>A	ENSP00000512780.1:p.Tyr692Ter
ENST00000696650.1:n.2024T>A
ENST00000696658.1:n.2626T>A
ENST00000696659.1:c.74T>A
ENST00000696663.1:c.893T>A
ENST00000696664.1:c.893T>A
ENST00000696675.1:c.2076T>A	ENSP00000512799.1:p.Tyr692Ter
ENST00000696683.1:c.893T>A
ENST00000696684.1:c.893T>A
ENST00000696685.1:c.893T>A
XM_011537034.1:c.2076T>A	XP_011535336.1:p.Tyr692Ter
XM_011537034.2:c.2076T>A	XP_011535336.1:p.Tyr692Ter
XM_011537035.1:c.1998T>A	XP_011535337.1:p.Tyr666Ter
XM_011537035.3:c.1998T>A	XP_011535337.1:p.Tyr666Ter
XM_011537036.1:c.2076T>A	XP_011535338.1:p.Tyr692Ter
XM_011537037.1:c.90T>A	XP_011535339.1:p.Tyr30Ter
XM_011537037.3:c.90T>A	XP_011535339.1:p.Tyr30Ter
XM_017021523.1:c.2076T>A	XP_016877012.1:p.Tyr692Ter
XM_017021524.2:c.1113T>A	XP_016877013.1:p.Tyr371Ter
XM_017021525.2:c.891T>A	XP_016877014.1:p.Tyr297Ter
XM_017021526.2:c.891T>A	XP_016877015.1:p.Tyr297Ter
XM_017021527.1:c.891T>A	XP_016877016.1:p.Tyr297Ter
XR_001750470.1:n.2168T>A
XR_001750471.2:n.2168T>A
XR_001750472.1:n.2168T>A