Canonical Allele Identifier: CA310997547
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs678881
gnomAD v3: 20-3669156-G-A
gnomAD v4: 20-3669156-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669156G>A , CM000682.2:g.3669156G>A GRCh38
NC_000020.10:g.3649803G>A , CM000682.1:g.3649803G>A GRCh37
NC_000020.9:g.3597803G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.2404+143C>T MANE Select ENSP00000348912.3:n.2404+143C>T
ENST00000350009.6:c.2326+143C>T ENSP00000322550.5:n.2326+143C>T
ENST00000356518.6:c.2404+143C>T ENSP00000348912.2:n.2404+143C>T
ENST00000379861.8:c.2404+143C>T ENSP00000369190.4:n.2404+143C>T
ENST00000466620.5:n.1965+143C>T
ENST00000483362.1:n.1327+143C>T
ENST00000617732.1:c.*1091+143C>T ENSP00000483343.1:n.*1091+143C>T
ENST00000619289.4:c.2044+143C>T ENSP00000484600.1:n.2044+143C>T
NM_001282447.1:c.2404+143C>T NP_001269376.1:n.2404+143C>T
NM_025220.3:c.2404+143C>T NP_079496.1:n.2404+143C>T
NM_153202.2:c.2326+143C>T NP_694882.1:n.2326+143C>T
XM_005260843.1:c.2443+143C>T XP_005260900.1:n.2443+143C>T
XM_006723639.1:c.2443+143C>T XP_006723702.1:n.2443+143C>T
XM_006723640.1:c.2434+143C>T XP_006723703.1:n.2434+143C>T
XM_011529366.1:c.2440+143C>T XP_011527668.1:n.2440+143C>T
XM_011529367.1:c.2401+143C>T XP_011527669.1:n.2401+143C>T
XM_011529368.1:c.2365+143C>T XP_011527670.1:n.2365+143C>T
XM_011529373.1:c.1441+143C>T XP_011527675.1:n.1441+143C>T
XR_937151.1:n.2455+143C>T
XR_937152.1:n.2455+143C>T
XR_937153.1:n.2428+143C>T
XR_937154.1:n.2428+143C>T
XR_937155.1:n.2349+143C>T
XR_937157.1:n.2351+143C>T
NM_001282447.2:c.2404+143C>T NP_001269376.1:n.2404+143C>T
NM_025220.4:c.2404+143C>T NP_079496.1:n.2404+143C>T
NM_153202.3:c.2326+143C>T NP_694882.1:n.2326+143C>T
XM_011529373.2:c.1441+143C>T XP_011527675.1:n.1441+143C>T
XR_001754405.1:n.2515+143C>T
XR_002958534.1:n.2624+143C>T
NM_001282447.3:c.2404+143C>T NP_001269376.1:n.2404+143C>T
NM_025220.5:c.2404+143C>T MANE Select NP_079496.1:n.2404+143C>T
NM_153202.4:c.2326+143C>T NP_694882.1:n.2326+143C>T