Canonical Allele Identifier: CA408103766
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3669569-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669569G>A , CM000682.2:g.3669569G>A GRCh38
NC_000020.10:g.3650216G>A , CM000682.1:g.3650216G>A GRCh37
NC_000020.9:g.3598216G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.2309C>T MANE Select ENSP00000348912.3:p.Ala770Val
ENST00000350009.6:c.2231C>T ENSP00000322550.5:p.Ala744Val
ENST00000356518.6:c.2309C>T ENSP00000348912.2:p.Ala770Val
ENST00000379861.8:c.2309C>T ENSP00000369190.4:p.Ala770Val
ENST00000466620.5:n.1870C>T
ENST00000483362.1:n.1057C>T
ENST00000617732.1:c.*996C>T ENSP00000483343.1:n.*996C>T
ENST00000619289.4:c.1949C>T ENSP00000484600.1:p.Ala650Val
NM_001282447.1:c.2309C>T NP_001269376.1:p.Ala770Val
NM_025220.3:c.2309C>T NP_079496.1:p.Ala770Val
NM_153202.2:c.2231C>T NP_694882.1:p.Ala744Val
XM_005260843.1:c.2348C>T XP_005260900.1:p.Ala783Val
XM_006723639.1:c.2348C>T XP_006723702.1:p.Ala783Val
XM_006723640.1:c.2339C>T XP_006723703.1:p.Ala780Val
XM_011529366.1:c.2345C>T XP_011527668.1:p.Ala782Val
XM_011529367.1:c.2306C>T XP_011527669.1:p.Ala769Val
XM_011529368.1:c.2270C>T XP_011527670.1:p.Ala757Val
XM_011529373.1:c.1346C>T XP_011527675.1:p.Ala449Val
XR_937151.1:n.2384-199C>T
XR_937152.1:n.2384-199C>T
XR_937153.1:n.2333C>T
XR_937154.1:n.2333C>T
XR_937155.1:n.2254C>T
XR_937157.1:n.2256C>T
NM_001282447.2:c.2309C>T NP_001269376.1:p.Ala770Val
NM_025220.4:c.2309C>T NP_079496.1:p.Ala770Val
NM_153202.3:c.2231C>T NP_694882.1:p.Ala744Val
XM_011529373.2:c.1346C>T XP_011527675.1:p.Ala449Val
XR_001754405.1:n.2420C>T
XR_002958534.1:n.2529C>T
NM_001282447.3:c.2309C>T NP_001269376.1:p.Ala770Val
NM_025220.5:c.2309C>T MANE Select NP_079496.1:p.Ala770Val
NM_153202.4:c.2231C>T NP_694882.1:p.Ala744Val