Canonical Allele Identifier: CA408103797
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs2087394404
gnomAD v4: 20-3669584-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669584T>C , CM000682.2:g.3669584T>C GRCh38
NC_000020.10:g.3650231T>C , CM000682.1:g.3650231T>C GRCh37
NC_000020.9:g.3598231T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.2294A>G MANE Select ENSP00000348912.3:p.Glu765Gly
ENST00000350009.6:c.2216A>G ENSP00000322550.5:p.Glu739Gly
ENST00000356518.6:c.2294A>G ENSP00000348912.2:p.Glu765Gly
ENST00000379861.8:c.2294A>G ENSP00000369190.4:p.Glu765Gly
ENST00000466620.5:n.1855A>G
ENST00000483362.1:n.1042A>G
ENST00000617732.1:c.*981A>G ENSP00000483343.1:n.*981A>G
ENST00000619289.4:c.1934A>G ENSP00000484600.1:p.Glu645Gly
NM_001282447.1:c.2294A>G NP_001269376.1:p.Glu765Gly
NM_025220.3:c.2294A>G NP_079496.1:p.Glu765Gly
NM_153202.2:c.2216A>G NP_694882.1:p.Glu739Gly
XM_005260843.1:c.2333A>G XP_005260900.1:p.Glu778Gly
XM_006723639.1:c.2333A>G XP_006723702.1:p.Glu778Gly
XM_006723640.1:c.2324A>G XP_006723703.1:p.Glu775Gly
XM_011529366.1:c.2330A>G XP_011527668.1:p.Glu777Gly
XM_011529367.1:c.2291A>G XP_011527669.1:p.Glu764Gly
XM_011529368.1:c.2255A>G XP_011527670.1:p.Glu752Gly
XM_011529373.1:c.1331A>G XP_011527675.1:p.Glu444Gly
XR_937151.1:n.2384-214A>G
XR_937152.1:n.2384-214A>G
XR_937153.1:n.2318A>G
XR_937154.1:n.2318A>G
XR_937155.1:n.2239A>G
XR_937157.1:n.2241A>G
NM_001282447.2:c.2294A>G NP_001269376.1:p.Glu765Gly
NM_025220.4:c.2294A>G NP_079496.1:p.Glu765Gly
NM_153202.3:c.2216A>G NP_694882.1:p.Glu739Gly
XM_011529373.2:c.1331A>G XP_011527675.1:p.Glu444Gly
XR_001754405.1:n.2405A>G
XR_002958534.1:n.2514A>G
NM_001282447.3:c.2294A>G NP_001269376.1:p.Glu765Gly
NM_025220.5:c.2294A>G MANE Select NP_079496.1:p.Glu765Gly
NM_153202.4:c.2216A>G NP_694882.1:p.Glu739Gly