Canonical Allele Identifier: CA408103882
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs1170605492
gnomAD v4: 20-3669624-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669624G>A , CM000682.2:g.3669624G>A GRCh38
NC_000020.10:g.3650271G>A , CM000682.1:g.3650271G>A GRCh37
NC_000020.9:g.3598271G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.2254C>T MANE Select ENSP00000348912.3:p.Pro752Ser
ENST00000350009.6:c.2176C>T ENSP00000322550.5:p.Pro726Ser
ENST00000356518.6:c.2254C>T ENSP00000348912.2:p.Pro752Ser
ENST00000379861.8:c.2254C>T ENSP00000369190.4:p.Pro752Ser
ENST00000466620.5:n.1815C>T
ENST00000483362.1:n.1002C>T
ENST00000617732.1:c.*941C>T ENSP00000483343.1:n.*941C>T
ENST00000619289.4:c.1894C>T ENSP00000484600.1:p.Pro632Ser
NM_001282447.1:c.2254C>T NP_001269376.1:p.Pro752Ser
NM_025220.3:c.2254C>T NP_079496.1:p.Pro752Ser
NM_153202.2:c.2176C>T NP_694882.1:p.Pro726Ser
XM_005260843.1:c.2293C>T XP_005260900.1:p.Pro765Ser
XM_006723639.1:c.2293C>T XP_006723702.1:p.Pro765Ser
XM_006723640.1:c.2284C>T XP_006723703.1:p.Pro762Ser
XM_011529366.1:c.2290C>T XP_011527668.1:p.Pro764Ser
XM_011529367.1:c.2251C>T XP_011527669.1:p.Pro751Ser
XM_011529368.1:c.2215C>T XP_011527670.1:p.Pro739Ser
XM_011529373.1:c.1291C>T XP_011527675.1:p.Pro431Ser
XR_937151.1:n.2384-254C>T
XR_937152.1:n.2384-254C>T
XR_937153.1:n.2278C>T
XR_937154.1:n.2278C>T
XR_937155.1:n.2199C>T
XR_937157.1:n.2201C>T
NM_001282447.2:c.2254C>T NP_001269376.1:p.Pro752Ser
NM_025220.4:c.2254C>T NP_079496.1:p.Pro752Ser
NM_153202.3:c.2176C>T NP_694882.1:p.Pro726Ser
XM_011529373.2:c.1291C>T XP_011527675.1:p.Pro431Ser
XR_001754405.1:n.2365C>T
XR_002958534.1:n.2474C>T
NM_001282447.3:c.2254C>T NP_001269376.1:p.Pro752Ser
NM_025220.5:c.2254C>T MANE Select NP_079496.1:p.Pro752Ser
NM_153202.4:c.2176C>T NP_694882.1:p.Pro726Ser