Canonical Allele Identifier: CA1139802996
Community Standard Title: NM_001079843.3(CASZ1):c.16+3499T=
Gene: CASZ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10690375A= , CM000663.2:g.10690375A= GRCh38
NC_000001.10:g.10750432A= , CM000663.1:g.10750432A= GRCh37
NC_000001.9:g.10673019A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001079843.3:c.16+3499T= MANE Select NP_001073312.1:n.16+3499T=
ENST00000377022.8:c.16+3499T= MANE Select ENSP00000366221.3:n.16+3499T=
NM_001079843.2:c.16+3499T= NP_001073312.1:n.16+3499T=
NM_017766.4:c.16+3499T= NP_060236.3:n.16+3499T=
NM_017766.5:c.16+3499T= NP_060236.3:n.16+3499T=
ENST00000344008.5:c.16+3499T= ENSP00000339445.5:n.16+3499T=
ENST00000377022.7:c.16+3499T= ENSP00000366221.3:n.16+3499T=
ENST00000478728.2:n.39+3499T=
ENST00000496432.6:n.222+3499T=
XM_005263479.2:c.88+3499T= XP_005263536.1:n.88+3499T=
XM_005263479.3:c.88+3499T= XP_005263536.1:n.88+3499T=
XM_006710712.2:c.16+3499T= XP_006710775.1:n.16+3499T=
XM_011541635.1:c.88+3499T= XP_011539937.1:n.88+3499T=
XM_011541635.2:c.88+3499T= XP_011539937.1:n.88+3499T=
XM_017001539.2:c.88+3499T= XP_016857028.1:n.88+3499T=
XM_017001540.2:c.16+3499T= XP_016857029.1:n.16+3499T=
XM_017001541.2:c.16+3499T= XP_016857030.1:n.16+3499T=