Canonical Allele Identifier: CA408103803
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs1313721380
gnomAD v2: 20-3650233-C-T
gnomAD v4: 20-3669586-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669586C>T , CM000682.2:g.3669586C>T GRCh38
NC_000020.10:g.3650233C>T , CM000682.1:g.3650233C>T GRCh37
NC_000020.9:g.3598233C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.2292G>A MANE Select ENSP00000348912.3:p.Met764Ile
ENST00000350009.6:c.2214G>A ENSP00000322550.5:p.Met738Ile
ENST00000356518.6:c.2292G>A ENSP00000348912.2:p.Met764Ile
ENST00000379861.8:c.2292G>A ENSP00000369190.4:p.Met764Ile
ENST00000466620.5:n.1853G>A
ENST00000483362.1:n.1040G>A
ENST00000617732.1:c.*979G>A ENSP00000483343.1:n.*979G>A
ENST00000619289.4:c.1932G>A ENSP00000484600.1:p.Met644Ile
NM_001282447.1:c.2292G>A NP_001269376.1:p.Met764Ile
NM_025220.3:c.2292G>A NP_079496.1:p.Met764Ile
NM_153202.2:c.2214G>A NP_694882.1:p.Met738Ile
XM_005260843.1:c.2331G>A XP_005260900.1:p.Met777Ile
XM_006723639.1:c.2331G>A XP_006723702.1:p.Met777Ile
XM_006723640.1:c.2322G>A XP_006723703.1:p.Met774Ile
XM_011529366.1:c.2328G>A XP_011527668.1:p.Met776Ile
XM_011529367.1:c.2289G>A XP_011527669.1:p.Met763Ile
XM_011529368.1:c.2253G>A XP_011527670.1:p.Met751Ile
XM_011529373.1:c.1329G>A XP_011527675.1:p.Met443Ile
XR_937151.1:n.2384-216G>A
XR_937152.1:n.2384-216G>A
XR_937153.1:n.2316G>A
XR_937154.1:n.2316G>A
XR_937155.1:n.2237G>A
XR_937157.1:n.2239G>A
NM_001282447.2:c.2292G>A NP_001269376.1:p.Met764Ile
NM_025220.4:c.2292G>A NP_079496.1:p.Met764Ile
NM_153202.3:c.2214G>A NP_694882.1:p.Met738Ile
XM_011529373.2:c.1329G>A XP_011527675.1:p.Met443Ile
XR_001754405.1:n.2403G>A
XR_002958534.1:n.2512G>A
NM_001282447.3:c.2292G>A NP_001269376.1:p.Met764Ile
NM_025220.5:c.2292G>A MANE Select NP_079496.1:p.Met764Ile
NM_153202.4:c.2214G>A NP_694882.1:p.Met738Ile