Canonical Allele Identifier: CA408103887
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs1429772298
gnomAD v4: 20-3669626-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669626C>T , CM000682.2:g.3669626C>T GRCh38
NC_000020.10:g.3650273C>T , CM000682.1:g.3650273C>T GRCh37
NC_000020.9:g.3598273C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.2252G>A MANE Select ENSP00000348912.3:p.Gly751Asp
ENST00000350009.6:c.2174G>A ENSP00000322550.5:p.Gly725Asp
ENST00000356518.6:c.2252G>A ENSP00000348912.2:p.Gly751Asp
ENST00000379861.8:c.2252G>A ENSP00000369190.4:p.Gly751Asp
ENST00000466620.5:n.1813G>A
ENST00000483362.1:n.1000G>A
ENST00000617732.1:c.*939G>A ENSP00000483343.1:n.*939G>A
ENST00000619289.4:c.1892G>A ENSP00000484600.1:p.Gly631Asp
NM_001282447.1:c.2252G>A NP_001269376.1:p.Gly751Asp
NM_025220.3:c.2252G>A NP_079496.1:p.Gly751Asp
NM_153202.2:c.2174G>A NP_694882.1:p.Gly725Asp
XM_005260843.1:c.2291G>A XP_005260900.1:p.Gly764Asp
XM_006723639.1:c.2291G>A XP_006723702.1:p.Gly764Asp
XM_006723640.1:c.2282G>A XP_006723703.1:p.Gly761Asp
XM_011529366.1:c.2288G>A XP_011527668.1:p.Gly763Asp
XM_011529367.1:c.2249G>A XP_011527669.1:p.Gly750Asp
XM_011529368.1:c.2213G>A XP_011527670.1:p.Gly738Asp
XM_011529373.1:c.1289G>A XP_011527675.1:p.Gly430Asp
XR_937151.1:n.2384-256G>A
XR_937152.1:n.2384-256G>A
XR_937153.1:n.2276G>A
XR_937154.1:n.2276G>A
XR_937155.1:n.2197G>A
XR_937157.1:n.2199G>A
NM_001282447.2:c.2252G>A NP_001269376.1:p.Gly751Asp
NM_025220.4:c.2252G>A NP_079496.1:p.Gly751Asp
NM_153202.3:c.2174G>A NP_694882.1:p.Gly725Asp
XM_011529373.2:c.1289G>A XP_011527675.1:p.Gly430Asp
XR_001754405.1:n.2363G>A
XR_002958534.1:n.2472G>A
NM_001282447.3:c.2252G>A NP_001269376.1:p.Gly751Asp
NM_025220.5:c.2252G>A MANE Select NP_079496.1:p.Gly751Asp
NM_153202.4:c.2174G>A NP_694882.1:p.Gly725Asp