Canonical Allele Identifier: CA9745064
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs147487185
gnomAD v2: 20-3650244-C-T
gnomAD v3: 20-3669597-C-T
gnomAD v4: 20-3669597-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669597C>T , CM000682.2:g.3669597C>T GRCh38
NC_000020.10:g.3650244C>T , CM000682.1:g.3650244C>T GRCh37
NC_000020.9:g.3598244C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.2281G>A MANE Select ENSP00000348912.3:p.Val761Ile
ENST00000350009.6:c.2203G>A ENSP00000322550.5:p.Val735Ile
ENST00000356518.6:c.2281G>A ENSP00000348912.2:p.Val761Ile
ENST00000379861.8:c.2281G>A ENSP00000369190.4:p.Val761Ile
ENST00000466620.5:n.1842G>A
ENST00000483362.1:n.1029G>A
ENST00000617732.1:c.*968G>A ENSP00000483343.1:n.*968G>A
ENST00000619289.4:c.1921G>A ENSP00000484600.1:p.Val641Ile
NM_001282447.1:c.2281G>A NP_001269376.1:p.Val761Ile
NM_025220.3:c.2281G>A NP_079496.1:p.Val761Ile
NM_153202.2:c.2203G>A NP_694882.1:p.Val735Ile
XM_005260843.1:c.2320G>A XP_005260900.1:p.Val774Ile
XM_006723639.1:c.2320G>A XP_006723702.1:p.Val774Ile
XM_006723640.1:c.2311G>A XP_006723703.1:p.Val771Ile
XM_011529366.1:c.2317G>A XP_011527668.1:p.Val773Ile
XM_011529367.1:c.2278G>A XP_011527669.1:p.Val760Ile
XM_011529368.1:c.2242G>A XP_011527670.1:p.Val748Ile
XM_011529373.1:c.1318G>A XP_011527675.1:p.Val440Ile
XR_937151.1:n.2384-227G>A
XR_937152.1:n.2384-227G>A
XR_937153.1:n.2305G>A
XR_937154.1:n.2305G>A
XR_937155.1:n.2226G>A
XR_937157.1:n.2228G>A
NM_001282447.2:c.2281G>A NP_001269376.1:p.Val761Ile
NM_025220.4:c.2281G>A NP_079496.1:p.Val761Ile
NM_153202.3:c.2203G>A NP_694882.1:p.Val735Ile
XM_011529373.2:c.1318G>A XP_011527675.1:p.Val440Ile
XR_001754405.1:n.2392G>A
XR_002958534.1:n.2501G>A
NM_001282447.3:c.2281G>A NP_001269376.1:p.Val761Ile
NM_025220.5:c.2281G>A MANE Select NP_079496.1:p.Val761Ile
NM_153202.4:c.2203G>A NP_694882.1:p.Val735Ile