Canonical Allele Identifier: CA408103799
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3669585-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669585C>A , CM000682.2:g.3669585C>A GRCh38
NC_000020.10:g.3650232C>A , CM000682.1:g.3650232C>A GRCh37
NC_000020.9:g.3598232C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.2293G>T MANE Select ENSP00000348912.3:p.Glu765Ter
ENST00000350009.6:c.2215G>T ENSP00000322550.5:p.Glu739Ter
ENST00000356518.6:c.2293G>T ENSP00000348912.2:p.Glu765Ter
ENST00000379861.8:c.2293G>T ENSP00000369190.4:p.Glu765Ter
ENST00000466620.5:n.1854G>T
ENST00000483362.1:n.1041G>T
ENST00000617732.1:c.*980G>T ENSP00000483343.1:n.*980G>T
ENST00000619289.4:c.1933G>T ENSP00000484600.1:p.Glu645Ter
NM_001282447.1:c.2293G>T NP_001269376.1:p.Glu765Ter
NM_025220.3:c.2293G>T NP_079496.1:p.Glu765Ter
NM_153202.2:c.2215G>T NP_694882.1:p.Glu739Ter
XM_005260843.1:c.2332G>T XP_005260900.1:p.Glu778Ter
XM_006723639.1:c.2332G>T XP_006723702.1:p.Glu778Ter
XM_006723640.1:c.2323G>T XP_006723703.1:p.Glu775Ter
XM_011529366.1:c.2329G>T XP_011527668.1:p.Glu777Ter
XM_011529367.1:c.2290G>T XP_011527669.1:p.Glu764Ter
XM_011529368.1:c.2254G>T XP_011527670.1:p.Glu752Ter
XM_011529373.1:c.1330G>T XP_011527675.1:p.Glu444Ter
XR_937151.1:n.2384-215G>T
XR_937152.1:n.2384-215G>T
XR_937153.1:n.2317G>T
XR_937154.1:n.2317G>T
XR_937155.1:n.2238G>T
XR_937157.1:n.2240G>T
NM_001282447.2:c.2293G>T NP_001269376.1:p.Glu765Ter
NM_025220.4:c.2293G>T NP_079496.1:p.Glu765Ter
NM_153202.3:c.2215G>T NP_694882.1:p.Glu739Ter
XM_011529373.2:c.1330G>T XP_011527675.1:p.Glu444Ter
XR_001754405.1:n.2404G>T
XR_002958534.1:n.2513G>T
NM_001282447.3:c.2293G>T NP_001269376.1:p.Glu765Ter
NM_025220.5:c.2293G>T MANE Select NP_079496.1:p.Glu765Ter
NM_153202.4:c.2215G>T NP_694882.1:p.Glu739Ter