Canonical Allele Identifier: CA2596044941

Gene: CCDC33

Linked Data

• dbSNP Id: rs540007905
• gnomAD v3: 15-74312469-G-T
• gnomAD v4: 15-74312469-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74312469G>T , CM000677.2:g.74312469G>T	GRCh38
NC_000015.9:g.74604810G>T , CM000677.1:g.74604810G>T	GRCh37
NC_000015.8:g.72391863G>T	NCBI36
NG_054754.1:g.114765G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000635913.2:c.1944+16521G>T	ENSP00000490425.2:n.1944+16521G>T
ENST00000398814.8:c.1290+16521G>T MANE Select	ENSP00000381795.3:n.1290+16521G>T
ENST00000398814.7:c.1290+16521G>T	ENSP00000381795.3:n.1290+16521G>T
ENST00000558659.5:c.931+16521G>T
NM_025055.4:c.1290+16521G>T	NP_079331.3:n.1290+16521G>T
XM_005254692.1:c.1290+16521G>T	XP_005254749.1:n.1290+16521G>T
XM_006720697.2:c.1962+16521G>T	XP_006720760.1:n.1962+16521G>T
XM_011522085.1:c.1944+16521G>T	XP_011520387.1:n.1944+16521G>T
XM_011522086.1:c.1308+16521G>T	XP_011520388.1:n.1308+16521G>T
XM_011522087.1:c.1290+16521G>T	XP_011520389.1:n.1290+16521G>T
XM_011522088.1:c.1290+16521G>T	XP_011520390.1:n.1290+16521G>T
XM_011522089.1:c.402+16521G>T	XP_011520391.1:n.402+16521G>T
XM_005254692.2:c.1290+16521G>T	XP_005254749.1:n.1290+16521G>T
XM_011522085.3:c.1944+16521G>T	XP_011520387.1:n.1944+16521G>T
XM_011522087.2:c.1290+16521G>T	XP_011520389.1:n.1290+16521G>T
XM_011522089.3:c.402+16521G>T	XP_011520391.1:n.402+16521G>T
XM_017022623.1:c.1944+16521G>T	XP_016878112.1:n.1944+16521G>T
XM_017022624.1:c.1944+16521G>T	XP_016878113.1:n.1944+16521G>T
XM_017022625.1:c.1944+16521G>T	XP_016878114.1:n.1944+16521G>T
XM_017022626.2:c.1944+16521G>T	XP_016878115.1:n.1944+16521G>T
XM_017022627.1:c.1944+16521G>T	XP_016878116.1:n.1944+16521G>T
XM_017022628.1:c.1944+16521G>T	XP_016878117.1:n.1944+16521G>T
XR_001751400.1:n.2566+16521G>T
XR_001751401.1:n.2566+16521G>T
NM_025055.5:c.1290+16521G>T MANE Select	NP_079331.3:n.1290+16521G>T