Canonical Allele Identifier: CA379012317

Gene: DEAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.644609T>A , CM000673.2:g.644609T>A	GRCh38
NC_000011.9:g.644609T>A , CM000673.1:g.644609T>A	GRCh37
NC_000011.8:g.634609T>A	NCBI36
NG_034156.1:g.56146A>T
NG_034156.2:g.67475A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021008.4:c.1639A>T MANE Select	NP_066288.2:p.Thr547Ser
ENST00000382409.4:c.1639A>T MANE Select	ENSP00000371846.3:p.Thr547Ser
NM_001293634.1:c.1414A>T	NP_001280563.1:p.Thr472Ser
NM_001367390.1:c.913A>T	NP_001354319.1:p.Thr305Ser
NM_021008.3:c.1639A>T	NP_066288.2:p.Thr547Ser
ENST00000382409.3:c.1639A>T	ENSP00000371846.3:p.Thr547Ser
ENST00000525626.6:n.1524A>T
ENST00000527170.5:c.1247A>T
ENST00000527658.1:n.316A>T
ENST00000528864.6:n.1525A>T
ENST00000682936.1:n.1399A>T
ENST00000683307.1:c.913A>T	ENSP00000507198.1:p.Thr305Ser
ENST00000685854.1:c.1741A>T	ENSP00000508801.1:p.Thr581Ser
ENST00000686001.1:c.*84A>T	ENSP00000508459.1:n.*84A>T
ENST00000687329.1:c.*474A>T	ENSP00000510598.1:n.*474A>T
ENST00000690068.1:c.1306A>T	ENSP00000509089.1:p.Thr436Ser
ENST00000692634.1:c.*384A>T	ENSP00000508859.1:n.*384A>T
XM_024448325.1:c.*199A>T	XP_024304093.1:n.*199A>T
XM_024448326.1:c.*248A>T	XP_024304094.1:n.*248A>T
XM_024448327.1:c.*474A>T	XP_024304095.1:n.*474A>T
XR_428838.2:n.1891A>T