Canonical Allele Identifier: CA408103942
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs2087496882
gnomAD v4: 20-3671012-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671012C>T , CM000682.2:g.3671012C>T GRCh38
NC_000020.10:g.3651659C>T , CM000682.1:g.3651659C>T GRCh37
NC_000020.9:g.3599659C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.2234G>A MANE Select ENSP00000348912.3:p.Cys745Tyr
ENST00000350009.6:c.2156G>A ENSP00000322550.5:p.Cys719Tyr
ENST00000356518.6:c.2234G>A ENSP00000348912.2:p.Cys745Tyr
ENST00000379861.8:c.2234G>A ENSP00000369190.4:p.Cys745Tyr
ENST00000466620.5:n.1795G>A
ENST00000617732.1:c.*921G>A ENSP00000483343.1:n.*921G>A
ENST00000619289.4:c.1874G>A ENSP00000484600.1:p.Cys625Tyr
NM_001282447.1:c.2234G>A NP_001269376.1:p.Cys745Tyr
NM_025220.3:c.2234G>A NP_079496.1:p.Cys745Tyr
NM_153202.2:c.2156G>A NP_694882.1:p.Cys719Tyr
XM_005260843.1:c.2273G>A XP_005260900.1:p.Cys758Tyr
XM_006723639.1:c.2273G>A XP_006723702.1:p.Cys758Tyr
XM_006723640.1:c.2264G>A XP_006723703.1:p.Cys755Tyr
XM_011529366.1:c.2270G>A XP_011527668.1:p.Cys757Tyr
XM_011529367.1:c.2231G>A XP_011527669.1:p.Cys744Tyr
XM_011529368.1:c.2195G>A XP_011527670.1:p.Cys732Tyr
XM_011529373.1:c.1271G>A XP_011527675.1:p.Cys424Tyr
XR_937151.1:n.2377G>A
XR_937152.1:n.2377G>A
XR_937153.1:n.2258G>A
XR_937154.1:n.2258G>A
XR_937155.1:n.2179G>A
XR_937157.1:n.2181G>A
NM_001282447.2:c.2234G>A NP_001269376.1:p.Cys745Tyr
NM_025220.4:c.2234G>A NP_079496.1:p.Cys745Tyr
NM_153202.3:c.2156G>A NP_694882.1:p.Cys719Tyr
XM_011529373.2:c.1271G>A XP_011527675.1:p.Cys424Tyr
XR_001754405.1:n.2345G>A
XR_002958534.1:n.2454G>A
NM_001282447.3:c.2234G>A NP_001269376.1:p.Cys745Tyr
NM_025220.5:c.2234G>A MANE Select NP_079496.1:p.Cys745Tyr
NM_153202.4:c.2156G>A NP_694882.1:p.Cys719Tyr