Canonical Allele Identifier: CA1014874148
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs560190893
gnomAD v3: 20-3668832-A-G
gnomAD v4: 20-3668832-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3668832A>G , CM000682.2:g.3668832A>G GRCh38
NC_000020.10:g.3649479A>G , CM000682.1:g.3649479A>G GRCh37
NC_000020.9:g.3597479A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.*131T>C MANE Select ENSP00000348912.3:n.*131T>C
ENST00000350009.6:c.*131T>C ENSP00000322550.5:n.*131T>C
ENST00000356518.6:c.*131T>C ENSP00000348912.2:n.*131T>C
ENST00000379861.8:c.*131T>C ENSP00000369190.4:n.*131T>C
ENST00000466620.5:n.2134T>C
ENST00000483362.1:n.1496T>C
ENST00000617732.1:c.*1257T>C ENSP00000483343.1:n.*1257T>C
ENST00000619289.4:c.*131T>C ENSP00000484600.1:n.*131T>C
NM_001282447.1:c.*131T>C NP_001269376.1:n.*131T>C
NM_025220.3:c.*131T>C NP_079496.1:n.*131T>C
NM_153202.2:c.*131T>C NP_694882.1:n.*131T>C
XM_005260843.1:c.*131T>C XP_005260900.1:n.*131T>C
XM_006723639.1:c.*131T>C XP_006723702.1:n.*131T>C
XM_006723640.1:c.*131T>C XP_006723703.1:n.*131T>C
XM_011529366.1:c.*131T>C XP_011527668.1:n.*131T>C
XM_011529367.1:c.*131T>C XP_011527669.1:n.*131T>C
XM_011529368.1:c.*131T>C XP_011527670.1:n.*131T>C
XM_011529373.1:c.*131T>C XP_011527675.1:n.*131T>C
XR_937153.1:n.2594T>C
XR_937154.1:n.2594T>C
XR_937155.1:n.2515T>C
XR_937157.1:n.2517T>C
NM_001282447.2:c.*131T>C NP_001269376.1:n.*131T>C
NM_025220.4:c.*131T>C NP_079496.1:n.*131T>C
NM_153202.3:c.*131T>C NP_694882.1:n.*131T>C
XM_011529373.2:c.*131T>C XP_011527675.1:n.*131T>C
XR_001754405.1:n.2681T>C
XR_002958534.1:n.2790T>C
NM_001282447.3:c.*131T>C NP_001269376.1:n.*131T>C
NM_025220.5:c.*131T>C MANE Select NP_079496.1:n.*131T>C
NM_153202.4:c.*131T>C NP_694882.1:n.*131T>C