Canonical Allele Identifier: CA408103830
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs758281279
gnomAD v2: 20-3650247-C-A
gnomAD v4: 20-3669600-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669600C>A , CM000682.2:g.3669600C>A GRCh38
NC_000020.10:g.3650247C>A , CM000682.1:g.3650247C>A GRCh37
NC_000020.9:g.3598247C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.2278G>T MANE Select ENSP00000348912.3:p.Gly760Cys
ENST00000350009.6:c.2200G>T ENSP00000322550.5:p.Gly734Cys
ENST00000356518.6:c.2278G>T ENSP00000348912.2:p.Gly760Cys
ENST00000379861.8:c.2278G>T ENSP00000369190.4:p.Gly760Cys
ENST00000466620.5:n.1839G>T
ENST00000483362.1:n.1026G>T
ENST00000617732.1:c.*965G>T ENSP00000483343.1:n.*965G>T
ENST00000619289.4:c.1918G>T ENSP00000484600.1:p.Gly640Cys
NM_001282447.1:c.2278G>T NP_001269376.1:p.Gly760Cys
NM_025220.3:c.2278G>T NP_079496.1:p.Gly760Cys
NM_153202.2:c.2200G>T NP_694882.1:p.Gly734Cys
XM_005260843.1:c.2317G>T XP_005260900.1:p.Gly773Cys
XM_006723639.1:c.2317G>T XP_006723702.1:p.Gly773Cys
XM_006723640.1:c.2308G>T XP_006723703.1:p.Gly770Cys
XM_011529366.1:c.2314G>T XP_011527668.1:p.Gly772Cys
XM_011529367.1:c.2275G>T XP_011527669.1:p.Gly759Cys
XM_011529368.1:c.2239G>T XP_011527670.1:p.Gly747Cys
XM_011529373.1:c.1315G>T XP_011527675.1:p.Gly439Cys
XR_937151.1:n.2384-230G>T
XR_937152.1:n.2384-230G>T
XR_937153.1:n.2302G>T
XR_937154.1:n.2302G>T
XR_937155.1:n.2223G>T
XR_937157.1:n.2225G>T
NM_001282447.2:c.2278G>T NP_001269376.1:p.Gly760Cys
NM_025220.4:c.2278G>T NP_079496.1:p.Gly760Cys
NM_153202.3:c.2200G>T NP_694882.1:p.Gly734Cys
XM_011529373.2:c.1315G>T XP_011527675.1:p.Gly439Cys
XR_001754405.1:n.2389G>T
XR_002958534.1:n.2498G>T
NM_001282447.3:c.2278G>T NP_001269376.1:p.Gly760Cys
NM_025220.5:c.2278G>T MANE Select NP_079496.1:p.Gly760Cys
NM_153202.4:c.2200G>T NP_694882.1:p.Gly734Cys