Canonical Allele Identifier: CA14747775
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs597980

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3670518G>A , CM000682.2:g.3670518G>A GRCh38
NC_000020.10:g.3651165G>A , CM000682.1:g.3651165G>A GRCh37
NC_000020.9:g.3599165G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.2240+488C>T MANE Select ENSP00000348912.3:p.=
ENST00000350009.6:c.2162+488C>T ENSP00000322550.5:p.=
ENST00000356518.6:c.2240+488C>T ENSP00000348912.2:p.=
ENST00000379861.8:c.2240+488C>T ENSP00000369190.4:p.=
ENST00000466620.5:n.1801+488C>T
ENST00000483362.1:n.108C>T
ENST00000617732.1:c.*927+488C>T ENSP00000483343.1:p.=
ENST00000619289.4:c.1880+488C>T ENSP00000484600.1:p.=
NM_001282447.1:c.2240+488C>T NP_001269376.1:p.=
NM_025220.3:c.2240+488C>T NP_079496.1:p.=
NM_153202.2:c.2162+488C>T NP_694882.1:p.=
XM_005260843.1:c.2279+488C>T XP_005260900.1:p.=
XM_006723639.1:c.2279+488C>T XP_006723702.1:p.=
XM_006723640.1:c.2270+488C>T XP_006723703.1:p.=
XM_011529366.1:c.2276+488C>T XP_011527668.1:p.=
XM_011529367.1:c.2237+488C>T XP_011527669.1:p.=
XM_011529368.1:c.2201+488C>T XP_011527670.1:p.=
XM_011529373.1:c.1277+488C>T XP_011527675.1:p.=
XR_937151.1:n.2383+488C>T
XR_937152.1:n.2383+488C>T
XR_937153.1:n.2264+488C>T
XR_937154.1:n.2264+488C>T
XR_937155.1:n.2185+488C>T
XR_937157.1:n.2187+488C>T
NM_001282447.2:c.2240+488C>T NP_001269376.1:p.=
NM_025220.4:c.2240+488C>T NP_079496.1:p.=
NM_153202.3:c.2162+488C>T NP_694882.1:p.=
XM_011529373.2:c.1277+488C>T XP_011527675.1:p.=
XR_001754405.1:n.2351+488C>T
XR_002958534.1:n.2460+488C>T
NM_001282447.3:c.2240+488C>T NP_001269376.1:p.=
NM_025220.5:c.2240+488C>T MANE Select NP_079496.1:p.=
NM_153202.4:c.2162+488C>T NP_694882.1:p.=