Canonical Allele Identifier: CA408103770
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3669570-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669570C>G , CM000682.2:g.3669570C>G GRCh38
NC_000020.10:g.3650217C>G , CM000682.1:g.3650217C>G GRCh37
NC_000020.9:g.3598217C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.2308G>C MANE Select ENSP00000348912.3:p.Ala770Pro
ENST00000350009.6:c.2230G>C ENSP00000322550.5:p.Ala744Pro
ENST00000356518.6:c.2308G>C ENSP00000348912.2:p.Ala770Pro
ENST00000379861.8:c.2308G>C ENSP00000369190.4:p.Ala770Pro
ENST00000466620.5:n.1869G>C
ENST00000483362.1:n.1056G>C
ENST00000617732.1:c.*995G>C ENSP00000483343.1:n.*995G>C
ENST00000619289.4:c.1948G>C ENSP00000484600.1:p.Ala650Pro
NM_001282447.1:c.2308G>C NP_001269376.1:p.Ala770Pro
NM_025220.3:c.2308G>C NP_079496.1:p.Ala770Pro
NM_153202.2:c.2230G>C NP_694882.1:p.Ala744Pro
XM_005260843.1:c.2347G>C XP_005260900.1:p.Ala783Pro
XM_006723639.1:c.2347G>C XP_006723702.1:p.Ala783Pro
XM_006723640.1:c.2338G>C XP_006723703.1:p.Ala780Pro
XM_011529366.1:c.2344G>C XP_011527668.1:p.Ala782Pro
XM_011529367.1:c.2305G>C XP_011527669.1:p.Ala769Pro
XM_011529368.1:c.2269G>C XP_011527670.1:p.Ala757Pro
XM_011529373.1:c.1345G>C XP_011527675.1:p.Ala449Pro
XR_937151.1:n.2384-200G>C
XR_937152.1:n.2384-200G>C
XR_937153.1:n.2332G>C
XR_937154.1:n.2332G>C
XR_937155.1:n.2253G>C
XR_937157.1:n.2255G>C
NM_001282447.2:c.2308G>C NP_001269376.1:p.Ala770Pro
NM_025220.4:c.2308G>C NP_079496.1:p.Ala770Pro
NM_153202.3:c.2230G>C NP_694882.1:p.Ala744Pro
XM_011529373.2:c.1345G>C XP_011527675.1:p.Ala449Pro
XR_001754405.1:n.2419G>C
XR_002958534.1:n.2528G>C
NM_001282447.3:c.2308G>C NP_001269376.1:p.Ala770Pro
NM_025220.5:c.2308G>C MANE Select NP_079496.1:p.Ala770Pro
NM_153202.4:c.2230G>C NP_694882.1:p.Ala744Pro