Canonical Allele Identifier: CA2651725604
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3670494-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3670494C>A , CM000682.2:g.3670494C>A GRCh38
NC_000020.10:g.3651141C>A , CM000682.1:g.3651141C>A GRCh37
NC_000020.9:g.3599141C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.2240+512G>T MANE Select ENSP00000348912.3:n.2240+512G>T
ENST00000350009.6:c.2162+512G>T ENSP00000322550.5:n.2162+512G>T
ENST00000356518.6:c.2240+512G>T ENSP00000348912.2:n.2240+512G>T
ENST00000379861.8:c.2240+512G>T ENSP00000369190.4:n.2240+512G>T
ENST00000466620.5:n.1801+512G>T
ENST00000483362.1:n.132G>T
ENST00000617732.1:c.*927+512G>T ENSP00000483343.1:n.*927+512G>T
ENST00000619289.4:c.1880+512G>T ENSP00000484600.1:n.1880+512G>T
NM_001282447.1:c.2240+512G>T NP_001269376.1:n.2240+512G>T
NM_025220.3:c.2240+512G>T NP_079496.1:n.2240+512G>T
NM_153202.2:c.2162+512G>T NP_694882.1:n.2162+512G>T
XM_005260843.1:c.2279+512G>T XP_005260900.1:n.2279+512G>T
XM_006723639.1:c.2279+512G>T XP_006723702.1:n.2279+512G>T
XM_006723640.1:c.2270+512G>T XP_006723703.1:n.2270+512G>T
XM_011529366.1:c.2276+512G>T XP_011527668.1:n.2276+512G>T
XM_011529367.1:c.2237+512G>T XP_011527669.1:n.2237+512G>T
XM_011529368.1:c.2201+512G>T XP_011527670.1:n.2201+512G>T
XM_011529373.1:c.1277+512G>T XP_011527675.1:n.1277+512G>T
XR_937151.1:n.2383+512G>T
XR_937152.1:n.2383+512G>T
XR_937153.1:n.2264+512G>T
XR_937154.1:n.2264+512G>T
XR_937155.1:n.2185+512G>T
XR_937157.1:n.2187+512G>T
NM_001282447.2:c.2240+512G>T NP_001269376.1:n.2240+512G>T
NM_025220.4:c.2240+512G>T NP_079496.1:n.2240+512G>T
NM_153202.3:c.2162+512G>T NP_694882.1:n.2162+512G>T
XM_011529373.2:c.1277+512G>T XP_011527675.1:n.1277+512G>T
XR_001754405.1:n.2351+512G>T
XR_002958534.1:n.2460+512G>T
NM_001282447.3:c.2240+512G>T NP_001269376.1:n.2240+512G>T
NM_025220.5:c.2240+512G>T MANE Select NP_079496.1:n.2240+512G>T
NM_153202.4:c.2162+512G>T NP_694882.1:n.2162+512G>T