Canonical Allele Identifier: CA9745196
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs779317899
gnomAD v2: 20-3652127-C-T
gnomAD v3: 20-3671480-C-T
gnomAD v4: 20-3671480-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671480C>T , CM000682.2:g.3671480C>T GRCh38
NC_000020.10:g.3652127C>T , CM000682.1:g.3652127C>T GRCh37
NC_000020.9:g.3600127C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.1922G>A MANE Select ENSP00000348912.3:p.Arg641His
ENST00000350009.6:c.1905+101G>A ENSP00000322550.5:n.1905+101G>A
ENST00000356518.6:c.1922G>A ENSP00000348912.2:p.Arg641His
ENST00000379861.8:c.1922G>A ENSP00000369190.4:p.Arg641His
ENST00000466620.5:n.1544+101G>A
ENST00000617732.1:c.*632-23G>A ENSP00000483343.1:n.*632-23G>A
ENST00000619289.4:c.1562G>A ENSP00000484600.1:p.Arg521His
NM_001282447.1:c.1922G>A NP_001269376.1:p.Arg641His
NM_025220.3:c.1922G>A NP_079496.1:p.Arg641His
NM_153202.2:c.1905+101G>A NP_694882.1:n.1905+101G>A
XM_005260843.1:c.1961G>A XP_005260900.1:p.Arg654His
XM_006723639.1:c.1961G>A XP_006723702.1:p.Arg654His
XM_006723640.1:c.1952G>A XP_006723703.1:p.Arg651His
XM_011529366.1:c.1958G>A XP_011527668.1:p.Arg653His
XM_011529367.1:c.1919G>A XP_011527669.1:p.Arg640His
XM_011529368.1:c.1944+101G>A XP_011527670.1:n.1944+101G>A
XM_011529369.1:c.*21G>A XP_011527671.1:n.*21G>A
XM_011529370.1:c.*4+101G>A XP_011527672.1:n.*4+101G>A
XM_011529373.1:c.959G>A XP_011527675.1:p.Arg320His
XR_937151.1:n.2065G>A
XR_937152.1:n.2065G>A
XR_937153.1:n.1946G>A
XR_937154.1:n.1946G>A
XR_937155.1:n.1867G>A
XR_937157.1:n.1869G>A
NM_001282447.2:c.1922G>A NP_001269376.1:p.Arg641His
NM_025220.4:c.1922G>A NP_079496.1:p.Arg641His
NM_153202.3:c.1905+101G>A NP_694882.1:n.1905+101G>A
XM_011529373.2:c.959G>A XP_011527675.1:p.Arg320His
XR_001754405.1:n.2033G>A
XR_002958534.1:n.2142G>A
NM_001282447.3:c.1922G>A NP_001269376.1:p.Arg641His
NM_025220.5:c.1922G>A MANE Select NP_079496.1:p.Arg641His
NM_153202.4:c.1905+101G>A NP_694882.1:n.1905+101G>A