Canonical Allele Identifier: CA9745281
Gene: ADAM33 HGNC NCBI

Linked Data

ClinVar Variation Id: 2373583
ClinVar RCV Id: RCV004210579
dbSNP Id: rs765009386
gnomAD v2: 20-3652554-C-A
gnomAD v3: 20-3671907-C-A
gnomAD v4: 20-3671907-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671907C>A , CM000682.2:g.3671907C>A GRCh38
NC_000020.10:g.3652554C>A , CM000682.1:g.3652554C>A GRCh37
NC_000020.9:g.3600554C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.1676G>T MANE Select ENSP00000348912.3:p.Ser559Ile
ENST00000350009.6:c.1676G>T ENSP00000322550.5:p.Ser559Ile
ENST00000356518.6:c.1676G>T ENSP00000348912.2:p.Ser559Ile
ENST00000379861.8:c.1676G>T ENSP00000369190.4:p.Ser559Ile
ENST00000466620.5:n.1315G>T
ENST00000617732.1:c.*632-450G>T ENSP00000483343.1:n.*632-450G>T
ENST00000619289.4:c.1316G>T ENSP00000484600.1:p.Ser439Ile
NM_001282447.1:c.1676G>T NP_001269376.1:p.Ser559Ile
NM_025220.3:c.1676G>T NP_079496.1:p.Ser559Ile
NM_153202.2:c.1676G>T NP_694882.1:p.Ser559Ile
XM_005260843.1:c.1715G>T XP_005260900.1:p.Ser572Ile
XM_006723639.1:c.1715G>T XP_006723702.1:p.Ser572Ile
XM_006723640.1:c.1706G>T XP_006723703.1:p.Ser569Ile
XM_011529366.1:c.1712G>T XP_011527668.1:p.Ser571Ile
XM_011529367.1:c.1673G>T XP_011527669.1:p.Ser558Ile
XM_011529368.1:c.1715G>T XP_011527670.1:p.Ser572Ile
XM_011529369.1:c.1683G>T XP_011527671.1:p.Gln561His
XM_011529370.1:c.1683G>T XP_011527672.1:p.Gln561His
XM_011529373.1:c.713G>T XP_011527675.1:p.Ser238Ile
XR_937151.1:n.1819G>T
XR_937152.1:n.1819G>T
XR_937153.1:n.1700G>T
XR_937154.1:n.1700G>T
XR_937155.1:n.1621G>T
XR_937157.1:n.1623G>T
NM_001282447.2:c.1676G>T NP_001269376.1:p.Ser559Ile
NM_025220.4:c.1676G>T NP_079496.1:p.Ser559Ile
NM_153202.3:c.1676G>T NP_694882.1:p.Ser559Ile
XM_011529373.2:c.713G>T XP_011527675.1:p.Ser238Ile
XR_001754405.1:n.1787G>T
XR_002958534.1:n.1896G>T
NM_001282447.3:c.1676G>T NP_001269376.1:p.Ser559Ile
NM_025220.5:c.1676G>T MANE Select NP_079496.1:p.Ser559Ile
NM_153202.4:c.1676G>T NP_694882.1:p.Ser559Ile