Canonical Allele Identifier: CA408103876
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3669621-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669621G>A , CM000682.2:g.3669621G>A GRCh38
NC_000020.10:g.3650268G>A , CM000682.1:g.3650268G>A GRCh37
NC_000020.9:g.3598268G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.2257C>T MANE Select ENSP00000348912.3:p.His753Tyr
ENST00000350009.6:c.2179C>T ENSP00000322550.5:p.His727Tyr
ENST00000356518.6:c.2257C>T ENSP00000348912.2:p.His753Tyr
ENST00000379861.8:c.2257C>T ENSP00000369190.4:p.His753Tyr
ENST00000466620.5:n.1818C>T
ENST00000483362.1:n.1005C>T
ENST00000617732.1:c.*944C>T ENSP00000483343.1:n.*944C>T
ENST00000619289.4:c.1897C>T ENSP00000484600.1:p.His633Tyr
NM_001282447.1:c.2257C>T NP_001269376.1:p.His753Tyr
NM_025220.3:c.2257C>T NP_079496.1:p.His753Tyr
NM_153202.2:c.2179C>T NP_694882.1:p.His727Tyr
XM_005260843.1:c.2296C>T XP_005260900.1:p.His766Tyr
XM_006723639.1:c.2296C>T XP_006723702.1:p.His766Tyr
XM_006723640.1:c.2287C>T XP_006723703.1:p.His763Tyr
XM_011529366.1:c.2293C>T XP_011527668.1:p.His765Tyr
XM_011529367.1:c.2254C>T XP_011527669.1:p.His752Tyr
XM_011529368.1:c.2218C>T XP_011527670.1:p.His740Tyr
XM_011529373.1:c.1294C>T XP_011527675.1:p.His432Tyr
XR_937151.1:n.2384-251C>T
XR_937152.1:n.2384-251C>T
XR_937153.1:n.2281C>T
XR_937154.1:n.2281C>T
XR_937155.1:n.2202C>T
XR_937157.1:n.2204C>T
NM_001282447.2:c.2257C>T NP_001269376.1:p.His753Tyr
NM_025220.4:c.2257C>T NP_079496.1:p.His753Tyr
NM_153202.3:c.2179C>T NP_694882.1:p.His727Tyr
XM_011529373.2:c.1294C>T XP_011527675.1:p.His432Tyr
XR_001754405.1:n.2368C>T
XR_002958534.1:n.2477C>T
NM_001282447.3:c.2257C>T NP_001269376.1:p.His753Tyr
NM_025220.5:c.2257C>T MANE Select NP_079496.1:p.His753Tyr
NM_153202.4:c.2179C>T NP_694882.1:p.His727Tyr