Canonical Allele Identifier: CA408105137
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs2087547237
gnomAD v3: 20-3671726-G-A
gnomAD v4: 20-3671726-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671726G>A , CM000682.2:g.3671726G>A GRCh38
NC_000020.10:g.3652373G>A , CM000682.1:g.3652373G>A GRCh37
NC_000020.9:g.3600373G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.1760C>T MANE Select ENSP00000348912.3:p.Ala587Val
ENST00000350009.6:c.1760C>T ENSP00000322550.5:p.Ala587Val
ENST00000356518.6:c.1760C>T ENSP00000348912.2:p.Ala587Val
ENST00000379861.8:c.1760C>T ENSP00000369190.4:p.Ala587Val
ENST00000466620.5:n.1399C>T
ENST00000617732.1:c.*632-269C>T ENSP00000483343.1:n.*632-269C>T
ENST00000619289.4:c.1400C>T ENSP00000484600.1:p.Ala467Val
NM_001282447.1:c.1760C>T NP_001269376.1:p.Ala587Val
NM_025220.3:c.1760C>T NP_079496.1:p.Ala587Val
NM_153202.2:c.1760C>T NP_694882.1:p.Ala587Val
XM_005260843.1:c.1799C>T XP_005260900.1:p.Ala600Val
XM_006723639.1:c.1799C>T XP_006723702.1:p.Ala600Val
XM_006723640.1:c.1790C>T XP_006723703.1:p.Ala597Val
XM_011529366.1:c.1796C>T XP_011527668.1:p.Ala599Val
XM_011529367.1:c.1757C>T XP_011527669.1:p.Ala586Val
XM_011529368.1:c.1799C>T XP_011527670.1:p.Ala600Val
XM_011529369.1:c.1767C>T XP_011527671.1:p.Arg589=
XM_011529370.1:c.1767C>T XP_011527672.1:p.Arg589=
XM_011529373.1:c.797C>T XP_011527675.1:p.Ala266Val
XR_937151.1:n.1903C>T
XR_937152.1:n.1903C>T
XR_937153.1:n.1784C>T
XR_937154.1:n.1784C>T
XR_937155.1:n.1705C>T
XR_937157.1:n.1707C>T
NM_001282447.2:c.1760C>T NP_001269376.1:p.Ala587Val
NM_025220.4:c.1760C>T NP_079496.1:p.Ala587Val
NM_153202.3:c.1760C>T NP_694882.1:p.Ala587Val
XM_011529373.2:c.797C>T XP_011527675.1:p.Ala266Val
XR_001754405.1:n.1871C>T
XR_002958534.1:n.1980C>T
NM_001282447.3:c.1760C>T NP_001269376.1:p.Ala587Val
NM_025220.5:c.1760C>T MANE Select NP_079496.1:p.Ala587Val
NM_153202.4:c.1760C>T NP_694882.1:p.Ala587Val