Canonical Allele Identifier: CA3071607237

Gene: CASZ1

Genomic Alleles

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

Transcript Alleles

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