Canonical Allele Identifier: CA408103870
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3669618-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669618T>A , CM000682.2:g.3669618T>A GRCh38
NC_000020.10:g.3650265T>A , CM000682.1:g.3650265T>A GRCh37
NC_000020.9:g.3598265T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.2260A>T MANE Select ENSP00000348912.3:p.Arg754Trp
ENST00000350009.6:c.2182A>T ENSP00000322550.5:p.Arg728Trp
ENST00000356518.6:c.2260A>T ENSP00000348912.2:p.Arg754Trp
ENST00000379861.8:c.2260A>T ENSP00000369190.4:p.Arg754Trp
ENST00000466620.5:n.1821A>T
ENST00000483362.1:n.1008A>T
ENST00000617732.1:c.*947A>T ENSP00000483343.1:n.*947A>T
ENST00000619289.4:c.1900A>T ENSP00000484600.1:p.Arg634Trp
NM_001282447.1:c.2260A>T NP_001269376.1:p.Arg754Trp
NM_025220.3:c.2260A>T NP_079496.1:p.Arg754Trp
NM_153202.2:c.2182A>T NP_694882.1:p.Arg728Trp
XM_005260843.1:c.2299A>T XP_005260900.1:p.Arg767Trp
XM_006723639.1:c.2299A>T XP_006723702.1:p.Arg767Trp
XM_006723640.1:c.2290A>T XP_006723703.1:p.Arg764Trp
XM_011529366.1:c.2296A>T XP_011527668.1:p.Arg766Trp
XM_011529367.1:c.2257A>T XP_011527669.1:p.Arg753Trp
XM_011529368.1:c.2221A>T XP_011527670.1:p.Arg741Trp
XM_011529373.1:c.1297A>T XP_011527675.1:p.Arg433Trp
XR_937151.1:n.2384-248A>T
XR_937152.1:n.2384-248A>T
XR_937153.1:n.2284A>T
XR_937154.1:n.2284A>T
XR_937155.1:n.2205A>T
XR_937157.1:n.2207A>T
NM_001282447.2:c.2260A>T NP_001269376.1:p.Arg754Trp
NM_025220.4:c.2260A>T NP_079496.1:p.Arg754Trp
NM_153202.3:c.2182A>T NP_694882.1:p.Arg728Trp
XM_011529373.2:c.1297A>T XP_011527675.1:p.Arg433Trp
XR_001754405.1:n.2371A>T
XR_002958534.1:n.2480A>T
NM_001282447.3:c.2260A>T NP_001269376.1:p.Arg754Trp
NM_025220.5:c.2260A>T MANE Select NP_079496.1:p.Arg754Trp
NM_153202.4:c.2182A>T NP_694882.1:p.Arg728Trp