Canonical Allele Identifier: CA2651725538
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3670485-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3670485A>G , CM000682.2:g.3670485A>G GRCh38
NC_000020.10:g.3651132A>G , CM000682.1:g.3651132A>G GRCh37
NC_000020.9:g.3599132A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.2240+521T>C MANE Select ENSP00000348912.3:n.2240+521T>C
ENST00000350009.6:c.2162+521T>C ENSP00000322550.5:n.2162+521T>C
ENST00000356518.6:c.2240+521T>C ENSP00000348912.2:n.2240+521T>C
ENST00000379861.8:c.2240+521T>C ENSP00000369190.4:n.2240+521T>C
ENST00000466620.5:n.1801+521T>C
ENST00000483362.1:n.141T>C
ENST00000617732.1:c.*927+521T>C ENSP00000483343.1:n.*927+521T>C
ENST00000619289.4:c.1880+521T>C ENSP00000484600.1:n.1880+521T>C
NM_001282447.1:c.2240+521T>C NP_001269376.1:n.2240+521T>C
NM_025220.3:c.2240+521T>C NP_079496.1:n.2240+521T>C
NM_153202.2:c.2162+521T>C NP_694882.1:n.2162+521T>C
XM_005260843.1:c.2279+521T>C XP_005260900.1:n.2279+521T>C
XM_006723639.1:c.2279+521T>C XP_006723702.1:n.2279+521T>C
XM_006723640.1:c.2270+521T>C XP_006723703.1:n.2270+521T>C
XM_011529366.1:c.2276+521T>C XP_011527668.1:n.2276+521T>C
XM_011529367.1:c.2237+521T>C XP_011527669.1:n.2237+521T>C
XM_011529368.1:c.2201+521T>C XP_011527670.1:n.2201+521T>C
XM_011529373.1:c.1277+521T>C XP_011527675.1:n.1277+521T>C
XR_937151.1:n.2383+521T>C
XR_937152.1:n.2383+521T>C
XR_937153.1:n.2264+521T>C
XR_937154.1:n.2264+521T>C
XR_937155.1:n.2185+521T>C
XR_937157.1:n.2187+521T>C
NM_001282447.2:c.2240+521T>C NP_001269376.1:n.2240+521T>C
NM_025220.4:c.2240+521T>C NP_079496.1:n.2240+521T>C
NM_153202.3:c.2162+521T>C NP_694882.1:n.2162+521T>C
XM_011529373.2:c.1277+521T>C XP_011527675.1:n.1277+521T>C
XR_001754405.1:n.2351+521T>C
XR_002958534.1:n.2460+521T>C
NM_001282447.3:c.2240+521T>C NP_001269376.1:n.2240+521T>C
NM_025220.5:c.2240+521T>C MANE Select NP_079496.1:n.2240+521T>C
NM_153202.4:c.2162+521T>C NP_694882.1:n.2162+521T>C