Canonical Allele Identifier: CA9745052
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs2280090
gnomAD v2: 20-3650205-G-A
gnomAD v3: 20-3669558-G-A
gnomAD v4: 20-3669558-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669558G>A , CM000682.2:g.3669558G>A GRCh38
NC_000020.10:g.3650205G>A , CM000682.1:g.3650205G>A GRCh37
NC_000020.9:g.3598205G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.2320C>T MANE Select ENSP00000348912.3:p.Pro774Ser
ENST00000350009.6:c.2242C>T ENSP00000322550.5:p.Pro748Ser
ENST00000356518.6:c.2320C>T ENSP00000348912.2:p.Pro774Ser
ENST00000379861.8:c.2320C>T ENSP00000369190.4:p.Pro774Ser
ENST00000466620.5:n.1881C>T
ENST00000483362.1:n.1068C>T
ENST00000617732.1:c.*1007C>T ENSP00000483343.1:n.*1007C>T
ENST00000619289.4:c.1960C>T ENSP00000484600.1:p.Pro654Ser
NM_001282447.1:c.2320C>T NP_001269376.1:p.Pro774Ser
NM_025220.3:c.2320C>T NP_079496.1:p.Pro774Ser
NM_153202.2:c.2242C>T NP_694882.1:p.Pro748Ser
XM_005260843.1:c.2359C>T XP_005260900.1:p.Pro787Ser
XM_006723639.1:c.2359C>T XP_006723702.1:p.Pro787Ser
XM_006723640.1:c.2350C>T XP_006723703.1:p.Pro784Ser
XM_011529366.1:c.2356C>T XP_011527668.1:p.Pro786Ser
XM_011529367.1:c.2317C>T XP_011527669.1:p.Pro773Ser
XM_011529368.1:c.2281C>T XP_011527670.1:p.Pro761Ser
XM_011529373.1:c.1357C>T XP_011527675.1:p.Pro453Ser
XR_937151.1:n.2384-188C>T
XR_937152.1:n.2384-188C>T
XR_937153.1:n.2344C>T
XR_937154.1:n.2344C>T
XR_937155.1:n.2265C>T
XR_937157.1:n.2267C>T
NM_001282447.2:c.2320C>T NP_001269376.1:p.Pro774Ser
NM_025220.4:c.2320C>T NP_079496.1:p.Pro774Ser
NM_153202.3:c.2242C>T NP_694882.1:p.Pro748Ser
XM_011529373.2:c.1357C>T XP_011527675.1:p.Pro453Ser
XR_001754405.1:n.2431C>T
XR_002958534.1:n.2540C>T
NM_001282447.3:c.2320C>T NP_001269376.1:p.Pro774Ser
NM_025220.5:c.2320C>T MANE Select NP_079496.1:p.Pro774Ser
NM_153202.4:c.2242C>T NP_694882.1:p.Pro748Ser