Canonical Allele Identifier: CA250964996
Community Standard Title: NM_001042517.2(DIAPH3):c.1245-153C>T
Gene: DIAPH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.59991427G>A , CM000675.2:g.59991427G>A GRCh38
NC_000013.10:g.60565561G>A , CM000675.1:g.60565561G>A GRCh37
NC_000013.9:g.59463562G>A NCBI36
NG_032693.1:g.177559C>T
NG_032693.2:g.177559C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001042517.2:c.1245-153C>T MANE Select NP_001035982.1:n.1245-153C>T
ENST00000400324.9:c.1245-153C>T MANE Select ENSP00000383178.3:n.1245-153C>T
NM_001042517.1:c.1245-153C>T NP_001035982.1:n.1245-153C>T
NM_001258366.1:c.1212-153C>T NP_001245295.1:n.1212-153C>T
NM_001258366.2:c.1212-153C>T NP_001245295.1:n.1212-153C>T
NM_001258367.1:c.1107-153C>T NP_001245296.1:n.1107-153C>T
NM_001258367.2:c.1107-153C>T NP_001245296.1:n.1107-153C>T
NM_001258368.1:c.1035-153C>T NP_001245297.1:n.1035-153C>T
NM_001258368.2:c.1035-153C>T NP_001245297.1:n.1035-153C>T
NM_001258369.1:c.1245-153C>T NP_001245298.1:n.1245-153C>T
NM_001258369.2:c.1245-153C>T NP_001245298.1:n.1245-153C>T
NM_001258370.1:c.456-153C>T NP_001245299.1:n.456-153C>T
NM_001258370.2:c.456-153C>T NP_001245299.1:n.456-153C>T
NM_030932.3:c.456-153C>T NP_112194.2:n.456-153C>T
NM_030932.4:c.456-153C>T NP_112194.2:n.456-153C>T
ENST00000267215.8:c.1245-153C>T ENSP00000267215.4:n.1245-153C>T
ENST00000377908.6:c.1212-153C>T ENSP00000367141.2:n.1212-153C>T
ENST00000400319.5:c.1035-153C>T ENSP00000383173.1:n.1035-153C>T
ENST00000400320.5:c.1107-153C>T ENSP00000383174.1:n.1107-153C>T
ENST00000400324.8:c.1245-153C>T ENSP00000383178.3:n.1245-153C>T
ENST00000465066.5:c.456-153C>T ENSP00000478137.1:n.456-153C>T
ENST00000498416.2:c.456-153C>T ENSP00000479091.1:n.456-153C>T
XM_006719876.1:c.456-153C>T XP_006719939.1:n.456-153C>T
XM_011535258.1:c.1245-153C>T XP_011533560.1:n.1245-153C>T
XM_011535258.2:c.1245-153C>T XP_011533560.1:n.1245-153C>T
XM_011535259.1:c.1245-153C>T XP_011533561.1:n.1245-153C>T
XM_011535260.1:c.1245-153C>T XP_011533562.1:n.1245-153C>T
XM_011535261.1:c.1035-153C>T XP_011533563.1:n.1035-153C>T
XM_011535262.1:c.456-153C>T XP_011533564.1:n.456-153C>T
XM_011535263.1:c.1245-153C>T XP_011533565.1:n.1245-153C>T
XM_011535263.2:c.1245-153C>T XP_011533565.1:n.1245-153C>T
XM_011535264.1:c.1245-153C>T XP_011533566.1:n.1245-153C>T
XM_011535265.1:c.1245-153C>T XP_011533567.1:n.1245-153C>T
XM_011535265.2:c.1245-153C>T XP_011533567.1:n.1245-153C>T
XM_017020789.1:c.1245-153C>T XP_016876278.1:n.1245-153C>T
XM_024449422.1:c.1245-153C>T XP_024305190.1:n.1245-153C>T
XR_001749694.1:n.1407-153C>T
XR_002957477.1:n.1407-153C>T
XR_002957478.1:n.1407-153C>T
XR_002957479.1:n.1407-153C>T
XR_002957480.1:n.1407-153C>T
XR_941672.1:n.1407-153C>T