Canonical Allele Identifier: CA408103835
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3669603-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669603C>A , CM000682.2:g.3669603C>A GRCh38
NC_000020.10:g.3650250C>A , CM000682.1:g.3650250C>A GRCh37
NC_000020.9:g.3598250C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.2275G>T MANE Select ENSP00000348912.3:p.Gly759Cys
ENST00000350009.6:c.2197G>T ENSP00000322550.5:p.Gly733Cys
ENST00000356518.6:c.2275G>T ENSP00000348912.2:p.Gly759Cys
ENST00000379861.8:c.2275G>T ENSP00000369190.4:p.Gly759Cys
ENST00000466620.5:n.1836G>T
ENST00000483362.1:n.1023G>T
ENST00000617732.1:c.*962G>T ENSP00000483343.1:n.*962G>T
ENST00000619289.4:c.1915G>T ENSP00000484600.1:p.Gly639Cys
NM_001282447.1:c.2275G>T NP_001269376.1:p.Gly759Cys
NM_025220.3:c.2275G>T NP_079496.1:p.Gly759Cys
NM_153202.2:c.2197G>T NP_694882.1:p.Gly733Cys
XM_005260843.1:c.2314G>T XP_005260900.1:p.Gly772Cys
XM_006723639.1:c.2314G>T XP_006723702.1:p.Gly772Cys
XM_006723640.1:c.2305G>T XP_006723703.1:p.Gly769Cys
XM_011529366.1:c.2311G>T XP_011527668.1:p.Gly771Cys
XM_011529367.1:c.2272G>T XP_011527669.1:p.Gly758Cys
XM_011529368.1:c.2236G>T XP_011527670.1:p.Gly746Cys
XM_011529373.1:c.1312G>T XP_011527675.1:p.Gly438Cys
XR_937151.1:n.2384-233G>T
XR_937152.1:n.2384-233G>T
XR_937153.1:n.2299G>T
XR_937154.1:n.2299G>T
XR_937155.1:n.2220G>T
XR_937157.1:n.2222G>T
NM_001282447.2:c.2275G>T NP_001269376.1:p.Gly759Cys
NM_025220.4:c.2275G>T NP_079496.1:p.Gly759Cys
NM_153202.3:c.2197G>T NP_694882.1:p.Gly733Cys
XM_011529373.2:c.1312G>T XP_011527675.1:p.Gly438Cys
XR_001754405.1:n.2386G>T
XR_002958534.1:n.2495G>T
NM_001282447.3:c.2275G>T NP_001269376.1:p.Gly759Cys
NM_025220.5:c.2275G>T MANE Select NP_079496.1:p.Gly759Cys
NM_153202.4:c.2197G>T NP_694882.1:p.Gly733Cys