Canonical Allele Identifier: CA585523

Gene: CASZ1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10665441G>A , CM000663.2:g.10665441G>A	GRCh38
NC_000001.10:g.10725498G>A , CM000663.1:g.10725498G>A	GRCh37
NC_000001.9:g.10648085G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377022.8:c.147C>T MANE Select	ENSP00000366221.3:p.Asp49=
ENST00000344008.5:c.147C>T	ENSP00000339445.5:p.Asp49=
ENST00000377022.7:c.147C>T	ENSP00000366221.3:p.Asp49=
ENST00000478728.2:n.170C>T
ENST00000496432.6:n.353C>T
NM_001079843.2:c.147C>T	NP_001073312.1:p.Asp49=
NM_017766.4:c.147C>T	NP_060236.3:p.Asp49=
XM_005263479.2:c.219C>T	XP_005263536.1:p.Asp73=
XM_006710712.2:c.147C>T	XP_006710775.1:p.Asp49=
XM_011541635.1:c.219C>T	XP_011539937.1:p.Asp73=
XM_005263479.3:c.219C>T	XP_005263536.1:p.Asp73=
XM_011541635.2:c.219C>T	XP_011539937.1:p.Asp73=
XM_017001539.2:c.219C>T	XP_016857028.1:p.Asp73=
XM_017001540.2:c.147C>T	XP_016857029.1:p.Asp49=
XM_017001541.2:c.147C>T	XP_016857030.1:p.Asp49=
NM_001079843.3:c.147C>T MANE Select	NP_001073312.1:p.Asp49=
NM_017766.5:c.147C>T	NP_060236.3:p.Asp49=