Canonical Allele Identifier: CA378925893

Gene: DEAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.679691T>C , CM000673.2:g.679691T>C	GRCh38
NC_000011.9:g.679691T>C , CM000673.1:g.679691T>C	GRCh37
NC_000011.8:g.669691T>C	NCBI36
NG_034156.1:g.21064A>G
NG_034156.2:g.32393A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_021008.4:c.1123A>G MANE Select	NP_066288.2:p.Thr375Ala
ENST00000382409.4:c.1123A>G MANE Select	ENSP00000371846.3:p.Thr375Ala
NM_001293634.1:c.856A>G	NP_001280563.1:p.Thr286Ala
NM_001367390.1:c.397A>G	NP_001354319.1:p.Thr133Ala
NM_021008.3:c.1123A>G	NP_066288.2:p.Thr375Ala
ENST00000382409.3:c.1123A>G	ENSP00000371846.3:p.Thr375Ala
ENST00000525626.6:n.1008A>G
ENST00000525904.5:n.306A>G
ENST00000527170.5:c.485A>G
ENST00000528864.6:n.1009A>G
ENST00000530813.1:n.327A>G
ENST00000530813.2:c.*746A>G	ENSP00000508507.1:n.*746A>G
ENST00000682936.1:n.883A>G
ENST00000683307.1:c.397A>G	ENSP00000507198.1:p.Thr133Ala
ENST00000685854.1:c.919A>G	ENSP00000508801.1:p.Thr307Ala
ENST00000686001.1:c.919A>G	ENSP00000508459.1:p.Thr307Ala
ENST00000687329.1:c.919A>G	ENSP00000510598.1:p.Thr307Ala
ENST00000689835.1:c.919A>G	ENSP00000510621.1:p.Thr307Ala
ENST00000690068.1:c.919A>G	ENSP00000509089.1:p.Thr307Ala
ENST00000692634.1:c.667-869A>G	ENSP00000508859.1:n.667-869A>G
XM_011519842.1:c.1123A>G	XP_011518144.1:p.Thr375Ala
XM_011519842.3:c.1123A>G	XP_011518144.1:p.Thr375Ala
XM_011519843.1:c.1123A>G	XP_011518145.1:p.Thr375Ala
XM_024448325.1:c.1123A>G	XP_024304093.1:p.Thr375Ala
XM_024448326.1:c.1123A>G	XP_024304094.1:p.Thr375Ala
XM_024448327.1:c.1123A>G	XP_024304095.1:p.Thr375Ala
XR_428838.2:n.1129A>G
XR_930843.1:n.1129A>G