Canonical Allele Identifier: CA9745057
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs762345776
gnomAD v2: 20-3650224-G-A
gnomAD v4: 20-3669577-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669577G>A , CM000682.2:g.3669577G>A GRCh38
NC_000020.10:g.3650224G>A , CM000682.1:g.3650224G>A GRCh37
NC_000020.9:g.3598224G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.2301C>T MANE Select ENSP00000348912.3:p.Gly767=
ENST00000350009.6:c.2223C>T ENSP00000322550.5:p.Gly741=
ENST00000356518.6:c.2301C>T ENSP00000348912.2:p.Gly767=
ENST00000379861.8:c.2301C>T ENSP00000369190.4:p.Gly767=
ENST00000466620.5:n.1862C>T
ENST00000483362.1:n.1049C>T
ENST00000617732.1:c.*988C>T ENSP00000483343.1:n.*988C>T
ENST00000619289.4:c.1941C>T ENSP00000484600.1:p.Gly647=
NM_001282447.1:c.2301C>T NP_001269376.1:p.Gly767=
NM_025220.3:c.2301C>T NP_079496.1:p.Gly767=
NM_153202.2:c.2223C>T NP_694882.1:p.Gly741=
XM_005260843.1:c.2340C>T XP_005260900.1:p.Gly780=
XM_006723639.1:c.2340C>T XP_006723702.1:p.Gly780=
XM_006723640.1:c.2331C>T XP_006723703.1:p.Gly777=
XM_011529366.1:c.2337C>T XP_011527668.1:p.Gly779=
XM_011529367.1:c.2298C>T XP_011527669.1:p.Gly766=
XM_011529368.1:c.2262C>T XP_011527670.1:p.Gly754=
XM_011529373.1:c.1338C>T XP_011527675.1:p.Gly446=
XR_937151.1:n.2384-207C>T
XR_937152.1:n.2384-207C>T
XR_937153.1:n.2325C>T
XR_937154.1:n.2325C>T
XR_937155.1:n.2246C>T
XR_937157.1:n.2248C>T
NM_001282447.2:c.2301C>T NP_001269376.1:p.Gly767=
NM_025220.4:c.2301C>T NP_079496.1:p.Gly767=
NM_153202.3:c.2223C>T NP_694882.1:p.Gly741=
XM_011529373.2:c.1338C>T XP_011527675.1:p.Gly446=
XR_001754405.1:n.2412C>T
XR_002958534.1:n.2521C>T
NM_001282447.3:c.2301C>T NP_001269376.1:p.Gly767=
NM_025220.5:c.2301C>T MANE Select NP_079496.1:p.Gly767=
NM_153202.4:c.2223C>T NP_694882.1:p.Gly741=