Canonical Allele Identifier: CA408105378
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3671931-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671931G>T , CM000682.2:g.3671931G>T GRCh38
NC_000020.10:g.3652578G>T , CM000682.1:g.3652578G>T GRCh37
NC_000020.9:g.3600578G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.1652C>A MANE Select ENSP00000348912.3:p.Ala551Asp
ENST00000350009.6:c.1652C>A ENSP00000322550.5:p.Ala551Asp
ENST00000356518.6:c.1652C>A ENSP00000348912.2:p.Ala551Asp
ENST00000379861.8:c.1652C>A ENSP00000369190.4:p.Ala551Asp
ENST00000466620.5:n.1291C>A
ENST00000617732.1:c.*632-474C>A ENSP00000483343.1:n.*632-474C>A
ENST00000619289.4:c.1292C>A ENSP00000484600.1:p.Ala431Asp
NM_001282447.1:c.1652C>A NP_001269376.1:p.Ala551Asp
NM_025220.3:c.1652C>A NP_079496.1:p.Ala551Asp
NM_153202.2:c.1652C>A NP_694882.1:p.Ala551Asp
XM_005260843.1:c.1691C>A XP_005260900.1:p.Ala564Asp
XM_006723639.1:c.1691C>A XP_006723702.1:p.Ala564Asp
XM_006723640.1:c.1682C>A XP_006723703.1:p.Ala561Asp
XM_011529366.1:c.1688C>A XP_011527668.1:p.Ala563Asp
XM_011529367.1:c.1649C>A XP_011527669.1:p.Ala550Asp
XM_011529368.1:c.1691C>A XP_011527670.1:p.Ala564Asp
XM_011529369.1:c.1659C>A XP_011527671.1:p.Cys553Ter
XM_011529370.1:c.1659C>A XP_011527672.1:p.Cys553Ter
XM_011529373.1:c.689C>A XP_011527675.1:p.Ala230Asp
XR_937151.1:n.1795C>A
XR_937152.1:n.1795C>A
XR_937153.1:n.1676C>A
XR_937154.1:n.1676C>A
XR_937155.1:n.1597C>A
XR_937157.1:n.1599C>A
NM_001282447.2:c.1652C>A NP_001269376.1:p.Ala551Asp
NM_025220.4:c.1652C>A NP_079496.1:p.Ala551Asp
NM_153202.3:c.1652C>A NP_694882.1:p.Ala551Asp
XM_011529373.2:c.689C>A XP_011527675.1:p.Ala230Asp
XR_001754405.1:n.1763C>A
XR_002958534.1:n.1872C>A
NM_001282447.3:c.1652C>A NP_001269376.1:p.Ala551Asp
NM_025220.5:c.1652C>A MANE Select NP_079496.1:p.Ala551Asp
NM_153202.4:c.1652C>A NP_694882.1:p.Ala551Asp