Canonical Allele Identifier: CA509419281
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs2087398070
gnomAD v3: 20-3669637-G-T
gnomAD v4: 20-3669637-G-T
MyVariant Identifiers: chr20:g.3650284G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669637G>T , CM000682.2:g.3669637G>T GRCh38
NC_000020.10:g.3650284G>T , CM000682.1:g.3650284G>T GRCh37
NC_000020.9:g.3598284G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.2241C>A MANE Select ENSP00000348912.3:p.Gly747=
ENST00000350009.6:c.2163C>A ENSP00000322550.5:p.Gly721=
ENST00000356518.6:c.2241C>A ENSP00000348912.2:p.Gly747=
ENST00000379861.8:c.2241C>A ENSP00000369190.4:p.Gly747=
ENST00000466620.5:n.1802C>A
ENST00000483362.1:n.989C>A
ENST00000617732.1:c.*928C>A ENSP00000483343.1:n.*928C>A
ENST00000619289.4:c.1881C>A ENSP00000484600.1:p.Gly627=
NM_001282447.1:c.2241C>A NP_001269376.1:p.Gly747=
NM_025220.3:c.2241C>A NP_079496.1:p.Gly747=
NM_153202.2:c.2163C>A NP_694882.1:p.Gly721=
XM_005260843.1:c.2280C>A XP_005260900.1:p.Gly760=
XM_006723639.1:c.2280C>A XP_006723702.1:p.Gly760=
XM_006723640.1:c.2271C>A XP_006723703.1:p.Gly757=
XM_011529366.1:c.2277C>A XP_011527668.1:p.Gly759=
XM_011529367.1:c.2238C>A XP_011527669.1:p.Gly746=
XM_011529368.1:c.2202C>A XP_011527670.1:p.Gly734=
XM_011529373.1:c.1278C>A XP_011527675.1:p.Gly426=
XR_937151.1:n.2384-267C>A
XR_937152.1:n.2384-267C>A
XR_937153.1:n.2265C>A
XR_937154.1:n.2265C>A
XR_937155.1:n.2186C>A
XR_937157.1:n.2188C>A
NM_001282447.2:c.2241C>A NP_001269376.1:p.Gly747=
NM_025220.4:c.2241C>A NP_079496.1:p.Gly747=
NM_153202.3:c.2163C>A NP_694882.1:p.Gly721=
XM_011529373.2:c.1278C>A XP_011527675.1:p.Gly426=
XR_001754405.1:n.2352C>A
XR_002958534.1:n.2461C>A
NM_001282447.3:c.2241C>A NP_001269376.1:p.Gly747=
NM_025220.5:c.2241C>A MANE Select NP_079496.1:p.Gly747=
NM_153202.4:c.2163C>A NP_694882.1:p.Gly721=