Canonical Allele Identifier: CA250970693
Community Standard Title: NM_001042517.2(DIAPH3):c.496-152T>G
Gene: DIAPH3 HGNC NCBI
DIAPH3-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.60042972A>C , CM000675.2:g.60042972A>C GRCh38
NC_000013.10:g.60617106A>C , CM000675.1:g.60617106A>C GRCh37
NC_000013.9:g.59515107A>C NCBI36
NG_032693.1:g.126014T>G
NG_032693.2:g.126014T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001042517.2:c.496-152T>G (DIAPH3) MANE Select NP_001035982.1:n.496-152T>G
ENST00000400324.9:c.496-152T>G (DIAPH3) MANE Select ENSP00000383178.3:n.496-152T>G
NM_001042517.1:c.496-152T>G (DIAPH3) NP_001035982.1:n.496-152T>G
NM_001258366.1:c.463-152T>G (DIAPH3) NP_001245295.1:n.463-152T>G
NM_001258366.2:c.463-152T>G (DIAPH3) NP_001245295.1:n.463-152T>G
NM_001258367.1:c.358-152T>G (DIAPH3) NP_001245296.1:n.358-152T>G
NM_001258367.2:c.358-152T>G (DIAPH3) NP_001245296.1:n.358-152T>G
NM_001258368.1:c.286-152T>G (DIAPH3) NP_001245297.1:n.286-152T>G
NM_001258368.2:c.286-152T>G (DIAPH3) NP_001245297.1:n.286-152T>G
NM_001258369.1:c.496-152T>G (DIAPH3) NP_001245298.1:n.496-152T>G
NM_001258369.2:c.496-152T>G (DIAPH3) NP_001245298.1:n.496-152T>G
NR_046539.2:n.338+183A>C (DIAPH3-AS1)
NR_051993.2:n.178+183A>C (DIAPH3-AS1)
NR_051994.2:n.266+183A>C (DIAPH3-AS1)
NR_109838.1:n.457+183A>C (DIAPH3-AS1)
ENST00000267215.8:c.496-152T>G (DIAPH3) ENSP00000267215.4:n.496-152T>G
ENST00000377908.6:c.463-152T>G (DIAPH3) ENSP00000367141.2:n.463-152T>G
ENST00000400319.5:c.286-152T>G (DIAPH3) ENSP00000383173.1:n.286-152T>G
ENST00000400320.5:c.358-152T>G (DIAPH3) ENSP00000383174.1:n.358-152T>G
ENST00000400324.8:c.496-152T>G (DIAPH3) ENSP00000383178.3:n.496-152T>G
XM_011535258.1:c.496-152T>G (DIAPH3) XP_011533560.1:n.496-152T>G
XM_011535258.2:c.496-152T>G (DIAPH3) XP_011533560.1:n.496-152T>G
XM_011535259.1:c.496-152T>G (DIAPH3) XP_011533561.1:n.496-152T>G
XM_011535260.1:c.496-152T>G (DIAPH3) XP_011533562.1:n.496-152T>G
XM_011535261.1:c.286-152T>G (DIAPH3) XP_011533563.1:n.286-152T>G
XM_011535263.1:c.496-152T>G (DIAPH3) XP_011533565.1:n.496-152T>G
XM_011535263.2:c.496-152T>G (DIAPH3) XP_011533565.1:n.496-152T>G
XM_011535264.1:c.496-152T>G (DIAPH3) XP_011533566.1:n.496-152T>G
XM_011535265.1:c.496-152T>G (DIAPH3) XP_011533567.1:n.496-152T>G
XM_011535265.2:c.496-152T>G (DIAPH3) XP_011533567.1:n.496-152T>G
XM_017020789.1:c.496-152T>G (DIAPH3) XP_016876278.1:n.496-152T>G
XM_024449422.1:c.496-152T>G (DIAPH3) XP_024305190.1:n.496-152T>G
XR_001749694.1:n.658-152T>G (DIAPH3)
XR_002957477.1:n.658-152T>G (DIAPH3)
XR_002957478.1:n.658-152T>G (DIAPH3)
XR_002957479.1:n.658-152T>G (DIAPH3)
XR_002957480.1:n.658-152T>G (DIAPH3)
XR_941672.1:n.658-152T>G (DIAPH3)