Canonical Allele Identifier: CA509419284
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs1231115433
gnomAD v2: 20-3651658-G-A
gnomAD v4: 20-3671011-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671011G>A , CM000682.2:g.3671011G>A GRCh38
NC_000020.10:g.3651658G>A , CM000682.1:g.3651658G>A GRCh37
NC_000020.9:g.3599658G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.2235C>T MANE Select ENSP00000348912.3:p.Cys745=
ENST00000350009.6:c.2157C>T ENSP00000322550.5:p.Cys719=
ENST00000356518.6:c.2235C>T ENSP00000348912.2:p.Cys745=
ENST00000379861.8:c.2235C>T ENSP00000369190.4:p.Cys745=
ENST00000466620.5:n.1796C>T
ENST00000617732.1:c.*922C>T ENSP00000483343.1:n.*922C>T
ENST00000619289.4:c.1875C>T ENSP00000484600.1:p.Cys625=
NM_001282447.1:c.2235C>T NP_001269376.1:p.Cys745=
NM_025220.3:c.2235C>T NP_079496.1:p.Cys745=
NM_153202.2:c.2157C>T NP_694882.1:p.Cys719=
XM_005260843.1:c.2274C>T XP_005260900.1:p.Cys758=
XM_006723639.1:c.2274C>T XP_006723702.1:p.Cys758=
XM_006723640.1:c.2265C>T XP_006723703.1:p.Cys755=
XM_011529366.1:c.2271C>T XP_011527668.1:p.Cys757=
XM_011529367.1:c.2232C>T XP_011527669.1:p.Cys744=
XM_011529368.1:c.2196C>T XP_011527670.1:p.Cys732=
XM_011529373.1:c.1272C>T XP_011527675.1:p.Cys424=
XR_937151.1:n.2378C>T
XR_937152.1:n.2378C>T
XR_937153.1:n.2259C>T
XR_937154.1:n.2259C>T
XR_937155.1:n.2180C>T
XR_937157.1:n.2182C>T
NM_001282447.2:c.2235C>T NP_001269376.1:p.Cys745=
NM_025220.4:c.2235C>T NP_079496.1:p.Cys745=
NM_153202.3:c.2157C>T NP_694882.1:p.Cys719=
XM_011529373.2:c.1272C>T XP_011527675.1:p.Cys424=
XR_001754405.1:n.2346C>T
XR_002958534.1:n.2455C>T
NM_001282447.3:c.2235C>T NP_001269376.1:p.Cys745=
NM_025220.5:c.2235C>T MANE Select NP_079496.1:p.Cys745=
NM_153202.4:c.2157C>T NP_694882.1:p.Cys719=