Canonical Allele Identifier: CA6996579

Gene: DIAPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.59971024G>A , CM000675.2:g.59971024G>A	GRCh38
NC_000013.10:g.60545158G>A , CM000675.1:g.60545158G>A	GRCh37
NC_000013.9:g.59443159G>A	NCBI36
NG_032693.1:g.197962C>T
NG_032693.2:g.197962C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001042517.2:c.1787C>T MANE Select	NP_001035982.1:p.Pro596Leu
ENST00000400324.9:c.1787C>T MANE Select	ENSP00000383178.3:p.Pro596Leu
NM_001042517.1:c.1787C>T	NP_001035982.1:p.Pro596Leu
NM_001258366.1:c.1754C>T	NP_001245295.1:p.Pro585Leu
NM_001258366.2:c.1754C>T	NP_001245295.1:p.Pro585Leu
NM_001258367.1:c.1649C>T	NP_001245296.1:p.Pro550Leu
NM_001258367.2:c.1649C>T	NP_001245296.1:p.Pro550Leu
NM_001258368.1:c.1577C>T	NP_001245297.1:p.Pro526Leu
NM_001258368.2:c.1577C>T	NP_001245297.1:p.Pro526Leu
NM_001258369.1:c.1787C>T	NP_001245298.1:p.Pro596Leu
NM_001258369.2:c.1787C>T	NP_001245298.1:p.Pro596Leu
NM_001258370.1:c.998C>T	NP_001245299.1:p.Pro333Leu
NM_001258370.2:c.998C>T	NP_001245299.1:p.Pro333Leu
NM_030932.3:c.998C>T	NP_112194.2:p.Pro333Leu
NM_030932.4:c.998C>T	NP_112194.2:p.Pro333Leu
ENST00000267215.8:c.1787C>T	ENSP00000267215.4:p.Pro596Leu
ENST00000377908.6:c.1754C>T	ENSP00000367141.2:p.Pro585Leu
ENST00000400319.5:c.1577C>T	ENSP00000383173.1:p.Pro526Leu
ENST00000400320.5:c.1649C>T	ENSP00000383174.1:p.Pro550Leu
ENST00000400324.8:c.1787C>T	ENSP00000383178.3:p.Pro596Leu
ENST00000465066.5:c.998C>T	ENSP00000478137.1:p.Pro333Leu
ENST00000498416.2:c.998C>T	ENSP00000479091.1:p.Pro333Leu
XM_006719876.1:c.998C>T	XP_006719939.1:p.Pro333Leu
XM_011535258.1:c.1787C>T	XP_011533560.1:p.Pro596Leu
XM_011535258.2:c.1787C>T	XP_011533560.1:p.Pro596Leu
XM_011535259.1:c.1787C>T	XP_011533561.1:p.Pro596Leu
XM_011535260.1:c.1787C>T	XP_011533562.1:p.Pro596Leu
XM_011535261.1:c.1577C>T	XP_011533563.1:p.Pro526Leu
XM_011535262.1:c.998C>T	XP_011533564.1:p.Pro333Leu
XM_011535263.1:c.1787C>T	XP_011533565.1:p.Pro596Leu
XM_011535263.2:c.1787C>T	XP_011533565.1:p.Pro596Leu
XM_011535264.1:c.1787C>T	XP_011533566.1:p.Pro596Leu
XM_011535265.1:c.1787C>T	XP_011533567.1:p.Pro596Leu
XM_011535265.2:c.1787C>T	XP_011533567.1:p.Pro596Leu
XM_017020789.1:c.1787C>T	XP_016876278.1:p.Pro596Leu
XM_024449422.1:c.1787C>T	XP_024305190.1:p.Pro596Leu
XR_001749694.1:n.1949C>T
XR_002957477.1:n.1949C>T
XR_002957478.1:n.1949C>T
XR_002957479.1:n.1949C>T
XR_002957480.1:n.1949C>T
XR_941672.1:n.1949C>T