Canonical Allele Identifier: CA6996291
Gene: DIAPH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.59839447G>C , CM000675.2:g.59839447G>C GRCh38
NC_000013.10:g.60413581G>C , CM000675.1:g.60413581G>C GRCh37
NC_000013.9:g.59311582G>C NCBI36
NG_032693.1:g.329539C>G
NG_032693.2:g.329539C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400324.9:c.2739C>G MANE Select ENSP00000383178.3:p.Val913=
ENST00000267215.8:c.2739C>G ENSP00000267215.4:p.Val913=
ENST00000377908.6:c.2706C>G ENSP00000367141.2:p.Val902=
ENST00000400319.5:c.2529C>G ENSP00000383173.1:p.Val843=
ENST00000400320.5:c.2601C>G ENSP00000383174.1:p.Val867=
ENST00000400324.8:c.2739C>G ENSP00000383178.3:p.Val913=
ENST00000465066.5:c.1950C>G ENSP00000478137.1:p.Val650=
ENST00000615942.1:n.28C>G
NM_001042517.1:c.2739C>G NP_001035982.1:p.Val913=
NM_001258366.1:c.2706C>G NP_001245295.1:p.Val902=
NM_001258367.1:c.2601C>G NP_001245296.1:p.Val867=
NM_001258368.1:c.2529C>G NP_001245297.1:p.Val843=
NM_001258369.1:c.2739C>G NP_001245298.1:p.Val913=
NM_030932.3:c.1950C>G NP_112194.2:p.Val650=
XM_006719876.1:c.1950C>G XP_006719939.1:p.Val650=
XM_011535258.1:c.2739C>G XP_011533560.1:p.Val913=
XM_011535259.1:c.2739C>G XP_011533561.1:p.Val913=
XM_011535260.1:c.2739C>G XP_011533562.1:p.Val913=
XM_011535261.1:c.2529C>G XP_011533563.1:p.Val843=
XM_011535262.1:c.1950C>G XP_011533564.1:p.Val650=
XR_941672.1:n.2901C>G
XM_011535258.2:c.2739C>G XP_011533560.1:p.Val913=
XM_024449422.1:c.2739C>G XP_024305190.1:p.Val913=
XR_001749694.1:n.2923C>G
XR_002957477.1:n.2901C>G
XR_002957478.1:n.2901C>G
XR_002957479.1:n.2901C>G
XR_002957480.1:n.2901C>G
NM_001042517.2:c.2739C>G MANE Select NP_001035982.1:p.Val913=
NM_001258366.2:c.2706C>G NP_001245295.1:p.Val902=
NM_001258367.2:c.2601C>G NP_001245296.1:p.Val867=
NM_001258368.2:c.2529C>G NP_001245297.1:p.Val843=
NM_001258369.2:c.2739C>G NP_001245298.1:p.Val913=
NM_030932.4:c.1950C>G NP_112194.2:p.Val650=