Canonical Allele Identifier: CA2651725548
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3670489-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3670489A>C , CM000682.2:g.3670489A>C GRCh38
NC_000020.10:g.3651136A>C , CM000682.1:g.3651136A>C GRCh37
NC_000020.9:g.3599136A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.2240+517T>G MANE Select ENSP00000348912.3:n.2240+517T>G
ENST00000350009.6:c.2162+517T>G ENSP00000322550.5:n.2162+517T>G
ENST00000356518.6:c.2240+517T>G ENSP00000348912.2:n.2240+517T>G
ENST00000379861.8:c.2240+517T>G ENSP00000369190.4:n.2240+517T>G
ENST00000466620.5:n.1801+517T>G
ENST00000483362.1:n.137T>G
ENST00000617732.1:c.*927+517T>G ENSP00000483343.1:n.*927+517T>G
ENST00000619289.4:c.1880+517T>G ENSP00000484600.1:n.1880+517T>G
NM_001282447.1:c.2240+517T>G NP_001269376.1:n.2240+517T>G
NM_025220.3:c.2240+517T>G NP_079496.1:n.2240+517T>G
NM_153202.2:c.2162+517T>G NP_694882.1:n.2162+517T>G
XM_005260843.1:c.2279+517T>G XP_005260900.1:n.2279+517T>G
XM_006723639.1:c.2279+517T>G XP_006723702.1:n.2279+517T>G
XM_006723640.1:c.2270+517T>G XP_006723703.1:n.2270+517T>G
XM_011529366.1:c.2276+517T>G XP_011527668.1:n.2276+517T>G
XM_011529367.1:c.2237+517T>G XP_011527669.1:n.2237+517T>G
XM_011529368.1:c.2201+517T>G XP_011527670.1:n.2201+517T>G
XM_011529373.1:c.1277+517T>G XP_011527675.1:n.1277+517T>G
XR_937151.1:n.2383+517T>G
XR_937152.1:n.2383+517T>G
XR_937153.1:n.2264+517T>G
XR_937154.1:n.2264+517T>G
XR_937155.1:n.2185+517T>G
XR_937157.1:n.2187+517T>G
NM_001282447.2:c.2240+517T>G NP_001269376.1:n.2240+517T>G
NM_025220.4:c.2240+517T>G NP_079496.1:n.2240+517T>G
NM_153202.3:c.2162+517T>G NP_694882.1:n.2162+517T>G
XM_011529373.2:c.1277+517T>G XP_011527675.1:n.1277+517T>G
XR_001754405.1:n.2351+517T>G
XR_002958534.1:n.2460+517T>G
NM_001282447.3:c.2240+517T>G NP_001269376.1:n.2240+517T>G
NM_025220.5:c.2240+517T>G MANE Select NP_079496.1:n.2240+517T>G
NM_153202.4:c.2162+517T>G NP_694882.1:n.2162+517T>G