Canonical Allele Identifier: CA744012313
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs1393361432
gnomAD v3: 20-3669722-G-A
gnomAD v4: 20-3669722-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669722G>A , CM000682.2:g.3669722G>A GRCh38
NC_000020.10:g.3650369G>A , CM000682.1:g.3650369G>A GRCh37
NC_000020.9:g.3598369G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.2241-85C>T MANE Select ENSP00000348912.3:n.2241-85C>T
ENST00000350009.6:c.2163-85C>T ENSP00000322550.5:n.2163-85C>T
ENST00000356518.6:c.2241-85C>T ENSP00000348912.2:n.2241-85C>T
ENST00000379861.8:c.2241-85C>T ENSP00000369190.4:n.2241-85C>T
ENST00000466620.5:n.1802-85C>T
ENST00000483362.1:n.904C>T
ENST00000617732.1:c.*928-85C>T ENSP00000483343.1:n.*928-85C>T
ENST00000619289.4:c.1881-85C>T ENSP00000484600.1:n.1881-85C>T
NM_001282447.1:c.2241-85C>T NP_001269376.1:n.2241-85C>T
NM_025220.3:c.2241-85C>T NP_079496.1:n.2241-85C>T
NM_153202.2:c.2163-85C>T NP_694882.1:n.2163-85C>T
XM_005260843.1:c.2280-85C>T XP_005260900.1:n.2280-85C>T
XM_006723639.1:c.2280-85C>T XP_006723702.1:n.2280-85C>T
XM_006723640.1:c.2271-85C>T XP_006723703.1:n.2271-85C>T
XM_011529366.1:c.2277-85C>T XP_011527668.1:n.2277-85C>T
XM_011529367.1:c.2238-85C>T XP_011527669.1:n.2238-85C>T
XM_011529368.1:c.2202-85C>T XP_011527670.1:n.2202-85C>T
XM_011529373.1:c.1278-85C>T XP_011527675.1:n.1278-85C>T
XR_937151.1:n.2384-352C>T
XR_937152.1:n.2384-352C>T
XR_937153.1:n.2265-85C>T
XR_937154.1:n.2265-85C>T
XR_937155.1:n.2186-85C>T
XR_937157.1:n.2188-85C>T
NM_001282447.2:c.2241-85C>T NP_001269376.1:n.2241-85C>T
NM_025220.4:c.2241-85C>T NP_079496.1:n.2241-85C>T
NM_153202.3:c.2163-85C>T NP_694882.1:n.2163-85C>T
XM_011529373.2:c.1278-85C>T XP_011527675.1:n.1278-85C>T
XR_001754405.1:n.2352-85C>T
XR_002958534.1:n.2461-85C>T
NM_001282447.3:c.2241-85C>T NP_001269376.1:n.2241-85C>T
NM_025220.5:c.2241-85C>T MANE Select NP_079496.1:n.2241-85C>T
NM_153202.4:c.2163-85C>T NP_694882.1:n.2163-85C>T