Canonical Allele Identifier: CA6996025
Community Standard Title: NM_001042517.2(DIAPH3):c.3471G>A (p.Ala1157=)
Gene: DIAPH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.59666695C>T , CM000675.2:g.59666695C>T GRCh38
NC_000013.10:g.60240829C>T , CM000675.1:g.60240829C>T GRCh37
NC_000013.9:g.59138830C>T NCBI36
NG_032693.1:g.502291G>A
NG_032693.2:g.502291G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001042517.2:c.3471G>A MANE Select NP_001035982.1:p.Ala1157=
ENST00000400324.9:c.3471G>A MANE Select ENSP00000383178.3:p.Ala1157=
NM_001042517.1:c.3471G>A NP_001035982.1:p.Ala1157=
NM_001258366.1:c.3438G>A NP_001245295.1:p.Ala1146=
NM_001258366.2:c.3438G>A NP_001245295.1:p.Ala1146=
NM_001258367.1:c.3333G>A NP_001245296.1:p.Ala1111=
NM_001258367.2:c.3333G>A NP_001245296.1:p.Ala1111=
NM_001258368.1:c.3261G>A NP_001245297.1:p.Ala1087=
NM_001258368.2:c.3261G>A NP_001245297.1:p.Ala1087=
ENST00000377908.6:c.3438G>A ENSP00000367141.2:p.Ala1146=
ENST00000400319.5:c.3261G>A ENSP00000383173.1:p.Ala1087=
ENST00000400320.5:c.3333G>A ENSP00000383174.1:p.Ala1111=
ENST00000400324.8:c.3471G>A ENSP00000383178.3:p.Ala1157=
ENST00000649952.1:n.335G>A
XM_006719876.1:c.2682G>A XP_006719939.1:p.Ala894=
XM_011535261.1:c.3261G>A XP_011533563.1:p.Ala1087=
XM_011535262.1:c.2682G>A XP_011533564.1:p.Ala894=
XR_942000.1:n.152+6911C>T