Canonical Allele Identifier: CA6996155

Gene: DIAPH3

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.59810809G>A , CM000675.2:g.59810809G>A	GRCh38
NC_000013.10:g.60384943G>A , CM000675.1:g.60384943G>A	GRCh37
NC_000013.9:g.59282944G>A	NCBI36
NG_032693.1:g.358177C>T
NG_032693.2:g.358177C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400324.9:c.3142C>T MANE Select	ENSP00000383178.3:p.Arg1048Cys
ENST00000267215.8:c.3142C>T	ENSP00000267215.4:p.Arg1048Cys
ENST00000377908.6:c.3109C>T	ENSP00000367141.2:p.Arg1037Cys
ENST00000400319.5:c.2932C>T	ENSP00000383173.1:p.Arg978Cys
ENST00000400320.5:c.3004C>T	ENSP00000383174.1:p.Arg1002Cys
ENST00000400324.8:c.3142C>T	ENSP00000383178.3:p.Arg1048Cys
ENST00000465066.5:c.2353C>T	ENSP00000478137.1:p.Arg785Cys
NM_001042517.1:c.3142C>T	NP_001035982.1:p.Arg1048Cys
NM_001258366.1:c.3109C>T	NP_001245295.1:p.Arg1037Cys
NM_001258367.1:c.3004C>T	NP_001245296.1:p.Arg1002Cys
NM_001258368.1:c.2932C>T	NP_001245297.1:p.Arg978Cys
NM_001258369.1:c.3142C>T	NP_001245298.1:p.Arg1048Cys
NM_030932.3:c.2353C>T	NP_112194.2:p.Arg785Cys
XM_006719876.1:c.2353C>T	XP_006719939.1:p.Arg785Cys
XM_011535258.1:c.3142C>T	XP_011533560.1:p.Arg1048Cys
XM_011535259.1:c.3142C>T	XP_011533561.1:p.Arg1048Cys
XM_011535260.1:c.3142C>T	XP_011533562.1:p.Arg1048Cys
XM_011535261.1:c.2932C>T	XP_011533563.1:p.Arg978Cys
XM_011535262.1:c.2353C>T	XP_011533564.1:p.Arg785Cys
XR_941672.1:n.3304C>T
XM_011535258.2:c.3142C>T	XP_011533560.1:p.Arg1048Cys
XM_024449422.1:c.3142C>T	XP_024305190.1:p.Arg1048Cys
XR_002957477.1:n.3304C>T
XR_002957478.1:n.3304C>T
XR_002957479.1:n.3304C>T
XR_002957480.1:n.3304C>T
NM_001042517.2:c.3142C>T MANE Select	NP_001035982.1:p.Arg1048Cys
NM_001258366.2:c.3109C>T	NP_001245295.1:p.Arg1037Cys
NM_001258367.2:c.3004C>T	NP_001245296.1:p.Arg1002Cys
NM_001258368.2:c.2932C>T	NP_001245297.1:p.Arg978Cys
NM_001258369.2:c.3142C>T	NP_001245298.1:p.Arg1048Cys
NM_030932.4:c.2353C>T	NP_112194.2:p.Arg785Cys