Canonical Allele Identifier: CA408105286
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3671887-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671887A>G , CM000682.2:g.3671887A>G GRCh38
NC_000020.10:g.3652534A>G , CM000682.1:g.3652534A>G GRCh37
NC_000020.9:g.3600534A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.1696T>C MANE Select ENSP00000348912.3:p.Cys566Arg
ENST00000350009.6:c.1696T>C ENSP00000322550.5:p.Cys566Arg
ENST00000356518.6:c.1696T>C ENSP00000348912.2:p.Cys566Arg
ENST00000379861.8:c.1696T>C ENSP00000369190.4:p.Cys566Arg
ENST00000466620.5:n.1335T>C
ENST00000617732.1:c.*632-430T>C ENSP00000483343.1:n.*632-430T>C
ENST00000619289.4:c.1336T>C ENSP00000484600.1:p.Cys446Arg
NM_001282447.1:c.1696T>C NP_001269376.1:p.Cys566Arg
NM_025220.3:c.1696T>C NP_079496.1:p.Cys566Arg
NM_153202.2:c.1696T>C NP_694882.1:p.Cys566Arg
XM_005260843.1:c.1735T>C XP_005260900.1:p.Cys579Arg
XM_006723639.1:c.1735T>C XP_006723702.1:p.Cys579Arg
XM_006723640.1:c.1726T>C XP_006723703.1:p.Cys576Arg
XM_011529366.1:c.1732T>C XP_011527668.1:p.Cys578Arg
XM_011529367.1:c.1693T>C XP_011527669.1:p.Cys565Arg
XM_011529368.1:c.1735T>C XP_011527670.1:p.Cys579Arg
XM_011529369.1:c.1703T>C XP_011527671.1:p.Leu568Pro
XM_011529370.1:c.1703T>C XP_011527672.1:p.Leu568Pro
XM_011529373.1:c.733T>C XP_011527675.1:p.Cys245Arg
XR_937151.1:n.1839T>C
XR_937152.1:n.1839T>C
XR_937153.1:n.1720T>C
XR_937154.1:n.1720T>C
XR_937155.1:n.1641T>C
XR_937157.1:n.1643T>C
NM_001282447.2:c.1696T>C NP_001269376.1:p.Cys566Arg
NM_025220.4:c.1696T>C NP_079496.1:p.Cys566Arg
NM_153202.3:c.1696T>C NP_694882.1:p.Cys566Arg
XM_011529373.2:c.733T>C XP_011527675.1:p.Cys245Arg
XR_001754405.1:n.1807T>C
XR_002958534.1:n.1916T>C
NM_001282447.3:c.1696T>C NP_001269376.1:p.Cys566Arg
NM_025220.5:c.1696T>C MANE Select NP_079496.1:p.Cys566Arg
NM_153202.4:c.1696T>C NP_694882.1:p.Cys566Arg