Canonical Allele Identifier: CA250941359
Community Standard Title: NM_001042517.2(DIAPH3):c.3260-76G>C
Gene: DIAPH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.59774324C>G , CM000675.2:g.59774324C>G GRCh38
NC_000013.10:g.60348458C>G , CM000675.1:g.60348458C>G GRCh37
NC_000013.9:g.59246459C>G NCBI36
NG_032693.1:g.394662G>C
NG_032693.2:g.394662G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001042517.2:c.3260-76G>C MANE Select NP_001035982.1:n.3260-76G>C
ENST00000400324.9:c.3260-76G>C MANE Select ENSP00000383178.3:n.3260-76G>C
NM_001042517.1:c.3260-76G>C NP_001035982.1:n.3260-76G>C
NM_001258366.1:c.3227-76G>C NP_001245295.1:n.3227-76G>C
NM_001258366.2:c.3227-76G>C NP_001245295.1:n.3227-76G>C
NM_001258367.1:c.3122-76G>C NP_001245296.1:n.3122-76G>C
NM_001258367.2:c.3122-76G>C NP_001245296.1:n.3122-76G>C
NM_001258368.1:c.3050-76G>C NP_001245297.1:n.3050-76G>C
NM_001258368.2:c.3050-76G>C NP_001245297.1:n.3050-76G>C
NM_001258369.1:c.3260-76G>C NP_001245298.1:n.3260-76G>C
NM_001258369.2:c.3260-76G>C NP_001245298.1:n.3260-76G>C
NM_030932.3:c.2471-76G>C NP_112194.2:n.2471-76G>C
NM_030932.4:c.2471-76G>C NP_112194.2:n.2471-76G>C
ENST00000267215.8:c.3260-76G>C ENSP00000267215.4:n.3260-76G>C
ENST00000377908.6:c.3227-76G>C ENSP00000367141.2:n.3227-76G>C
ENST00000400319.5:c.3050-76G>C ENSP00000383173.1:n.3050-76G>C
ENST00000400320.5:c.3122-76G>C ENSP00000383174.1:n.3122-76G>C
ENST00000400324.8:c.3260-76G>C ENSP00000383178.3:n.3260-76G>C
ENST00000465066.5:c.2471-76G>C ENSP00000478137.1:n.2471-76G>C
XM_006719876.1:c.2471-76G>C XP_006719939.1:n.2471-76G>C
XM_011535258.1:c.3260-76G>C XP_011533560.1:n.3260-76G>C
XM_011535258.2:c.3260-76G>C XP_011533560.1:n.3260-76G>C
XM_011535259.1:c.3260-76G>C XP_011533561.1:n.3260-76G>C
XM_011535260.1:c.3260-76G>C XP_011533562.1:n.3260-76G>C
XM_011535261.1:c.3050-76G>C XP_011533563.1:n.3050-76G>C
XM_011535262.1:c.2471-76G>C XP_011533564.1:n.2471-76G>C
XM_024449422.1:c.3260-76G>C XP_024305190.1:n.3260-76G>C
XR_002957477.1:n.3422-76G>C
XR_002957478.1:n.3422-76G>C
XR_002957479.1:n.3422-76G>C
XR_002957480.1:n.3422-76G>C
XR_941672.1:n.3422-76G>C