Canonical Allele Identifier: CA10762904
Community Standard Title: NM_001079843.3(CASZ1):c.1340+114T>C
Gene: CASZ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10659588A>G , CM000663.2:g.10659588A>G GRCh38
NC_000001.10:g.10719645A>G , CM000663.1:g.10719645A>G GRCh37
NC_000001.9:g.10642232A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001079843.3:c.1340+114T>C MANE Select NP_001073312.1:n.1340+114T>C
ENST00000377022.8:c.1340+114T>C MANE Select ENSP00000366221.3:n.1340+114T>C
NM_001079843.2:c.1340+114T>C NP_001073312.1:n.1340+114T>C
NM_017766.4:c.1340+114T>C NP_060236.3:n.1340+114T>C
NM_017766.5:c.1340+114T>C NP_060236.3:n.1340+114T>C
ENST00000344008.5:c.1340+114T>C ENSP00000339445.5:n.1340+114T>C
ENST00000377022.7:c.1340+114T>C ENSP00000366221.3:n.1340+114T>C
ENST00000492173.1:n.1697+114T>C
ENST00000496432.6:n.1546+114T>C
XM_005263479.2:c.1412+114T>C XP_005263536.1:n.1412+114T>C
XM_005263479.3:c.1412+114T>C XP_005263536.1:n.1412+114T>C
XM_006710712.2:c.1340+114T>C XP_006710775.1:n.1340+114T>C
XM_011541635.1:c.1412+114T>C XP_011539937.1:n.1412+114T>C
XM_011541635.2:c.1412+114T>C XP_011539937.1:n.1412+114T>C
XM_017001539.2:c.1412+114T>C XP_016857028.1:n.1412+114T>C
XM_017001540.2:c.1340+114T>C XP_016857029.1:n.1340+114T>C
XM_017001541.2:c.1340+114T>C XP_016857030.1:n.1340+114T>C