Canonical Allele Identifier: CA9745060
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs749905403
gnomAD v2: 20-3650230-C-A
gnomAD v4: 20-3669583-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669583C>A , CM000682.2:g.3669583C>A GRCh38
NC_000020.10:g.3650230C>A , CM000682.1:g.3650230C>A GRCh37
NC_000020.9:g.3598230C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.2295G>T MANE Select ENSP00000348912.3:p.Glu765Asp
ENST00000350009.6:c.2217G>T ENSP00000322550.5:p.Glu739Asp
ENST00000356518.6:c.2295G>T ENSP00000348912.2:p.Glu765Asp
ENST00000379861.8:c.2295G>T ENSP00000369190.4:p.Glu765Asp
ENST00000466620.5:n.1856G>T
ENST00000483362.1:n.1043G>T
ENST00000617732.1:c.*982G>T ENSP00000483343.1:n.*982G>T
ENST00000619289.4:c.1935G>T ENSP00000484600.1:p.Glu645Asp
NM_001282447.1:c.2295G>T NP_001269376.1:p.Glu765Asp
NM_025220.3:c.2295G>T NP_079496.1:p.Glu765Asp
NM_153202.2:c.2217G>T NP_694882.1:p.Glu739Asp
XM_005260843.1:c.2334G>T XP_005260900.1:p.Glu778Asp
XM_006723639.1:c.2334G>T XP_006723702.1:p.Glu778Asp
XM_006723640.1:c.2325G>T XP_006723703.1:p.Glu775Asp
XM_011529366.1:c.2331G>T XP_011527668.1:p.Glu777Asp
XM_011529367.1:c.2292G>T XP_011527669.1:p.Glu764Asp
XM_011529368.1:c.2256G>T XP_011527670.1:p.Glu752Asp
XM_011529373.1:c.1332G>T XP_011527675.1:p.Glu444Asp
XR_937151.1:n.2384-213G>T
XR_937152.1:n.2384-213G>T
XR_937153.1:n.2319G>T
XR_937154.1:n.2319G>T
XR_937155.1:n.2240G>T
XR_937157.1:n.2242G>T
NM_001282447.2:c.2295G>T NP_001269376.1:p.Glu765Asp
NM_025220.4:c.2295G>T NP_079496.1:p.Glu765Asp
NM_153202.3:c.2217G>T NP_694882.1:p.Glu739Asp
XM_011529373.2:c.1332G>T XP_011527675.1:p.Glu444Asp
XR_001754405.1:n.2406G>T
XR_002958534.1:n.2515G>T
NM_001282447.3:c.2295G>T NP_001269376.1:p.Glu765Asp
NM_025220.5:c.2295G>T MANE Select NP_079496.1:p.Glu765Asp
NM_153202.4:c.2217G>T NP_694882.1:p.Glu739Asp