Canonical Allele Identifier: CA509419274
Gene: ADAM33 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.3650275A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669628A>G , CM000682.2:g.3669628A>G GRCh38
NC_000020.10:g.3650275A>G , CM000682.1:g.3650275A>G GRCh37
NC_000020.9:g.3598275A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.2250T>C MANE Select ENSP00000348912.3:p.Asp750=
ENST00000350009.6:c.2172T>C ENSP00000322550.5:p.Asp724=
ENST00000356518.6:c.2250T>C ENSP00000348912.2:p.Asp750=
ENST00000379861.8:c.2250T>C ENSP00000369190.4:p.Asp750=
ENST00000466620.5:n.1811T>C
ENST00000483362.1:n.998T>C
ENST00000617732.1:c.*937T>C ENSP00000483343.1:n.*937T>C
ENST00000619289.4:c.1890T>C ENSP00000484600.1:p.Asp630=
NM_001282447.1:c.2250T>C NP_001269376.1:p.Asp750=
NM_025220.3:c.2250T>C NP_079496.1:p.Asp750=
NM_153202.2:c.2172T>C NP_694882.1:p.Asp724=
XM_005260843.1:c.2289T>C XP_005260900.1:p.Asp763=
XM_006723639.1:c.2289T>C XP_006723702.1:p.Asp763=
XM_006723640.1:c.2280T>C XP_006723703.1:p.Asp760=
XM_011529366.1:c.2286T>C XP_011527668.1:p.Asp762=
XM_011529367.1:c.2247T>C XP_011527669.1:p.Asp749=
XM_011529368.1:c.2211T>C XP_011527670.1:p.Asp737=
XM_011529373.1:c.1287T>C XP_011527675.1:p.Asp429=
XR_937151.1:n.2384-258T>C
XR_937152.1:n.2384-258T>C
XR_937153.1:n.2274T>C
XR_937154.1:n.2274T>C
XR_937155.1:n.2195T>C
XR_937157.1:n.2197T>C
NM_001282447.2:c.2250T>C NP_001269376.1:p.Asp750=
NM_025220.4:c.2250T>C NP_079496.1:p.Asp750=
NM_153202.3:c.2172T>C NP_694882.1:p.Asp724=
XM_011529373.2:c.1287T>C XP_011527675.1:p.Asp429=
XR_001754405.1:n.2361T>C
XR_002958534.1:n.2470T>C
NM_001282447.3:c.2250T>C NP_001269376.1:p.Asp750=
NM_025220.5:c.2250T>C MANE Select NP_079496.1:p.Asp750=
NM_153202.4:c.2172T>C NP_694882.1:p.Asp724=