Canonical Allele Identifier: CA509559742
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs1169883051
gnomAD v2: 20-3652233-T-G
gnomAD v3: 20-3671586-T-G
gnomAD v4: 20-3671586-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671586T>G , CM000682.2:g.3671586T>G GRCh38
NC_000020.10:g.3652233T>G , CM000682.1:g.3652233T>G GRCh37
NC_000020.9:g.3600233T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.1900A>C MANE Select ENSP00000348912.3:p.Arg634=
ENST00000350009.6:c.1900A>C ENSP00000322550.5:p.Arg634=
ENST00000356518.6:c.1900A>C ENSP00000348912.2:p.Arg634=
ENST00000379861.8:c.1900A>C ENSP00000369190.4:p.Arg634=
ENST00000466620.5:n.1539A>C
ENST00000617732.1:c.*632-129A>C ENSP00000483343.1:n.*632-129A>C
ENST00000619289.4:c.1540A>C ENSP00000484600.1:p.Arg514=
NM_001282447.1:c.1900A>C NP_001269376.1:p.Arg634=
NM_025220.3:c.1900A>C NP_079496.1:p.Arg634=
NM_153202.2:c.1900A>C NP_694882.1:p.Arg634=
XM_005260843.1:c.1939A>C XP_005260900.1:p.Arg647=
XM_006723639.1:c.1939A>C XP_006723702.1:p.Arg647=
XM_006723640.1:c.1930A>C XP_006723703.1:p.Arg644=
XM_011529366.1:c.1936A>C XP_011527668.1:p.Arg646=
XM_011529367.1:c.1897A>C XP_011527669.1:p.Arg633=
XM_011529368.1:c.1939A>C XP_011527670.1:p.Arg647=
XM_011529369.1:c.1907A>C XP_011527671.1:p.Ter636Ser
XM_011529370.1:c.1907A>C XP_011527672.1:p.Ter636Ser
XM_011529373.1:c.937A>C XP_011527675.1:p.Arg313=
XR_937151.1:n.2043A>C
XR_937152.1:n.2043A>C
XR_937153.1:n.1924A>C
XR_937154.1:n.1924A>C
XR_937155.1:n.1845A>C
XR_937157.1:n.1847A>C
NM_001282447.2:c.1900A>C NP_001269376.1:p.Arg634=
NM_025220.4:c.1900A>C NP_079496.1:p.Arg634=
NM_153202.3:c.1900A>C NP_694882.1:p.Arg634=
XM_011529373.2:c.937A>C XP_011527675.1:p.Arg313=
XR_001754405.1:n.2011A>C
XR_002958534.1:n.2120A>C
NM_001282447.3:c.1900A>C NP_001269376.1:p.Arg634=
NM_025220.5:c.1900A>C MANE Select NP_079496.1:p.Arg634=
NM_153202.4:c.1900A>C NP_694882.1:p.Arg634=