Canonical Allele Identifier: CA9745284

Gene: ADAM33

Linked Data

• dbSNP Id: rs139672396
• ExAC: 20:3652582 C / T
• gnomAD v2: 20-3652582-C-T
• gnomAD v3: 20-3671935-C-T
• gnomAD v4: 20-3671935-C-T
• MyVariant Identifiers: chr20:g.3652582C>T (hg19) ; chr20:g.3652582_3652583delinsTT (hg19) ; chr20:g.3671935C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671935C>T , CM000682.2:g.3671935C>T	GRCh38
NC_000020.10:g.3652582C>T , CM000682.1:g.3652582C>T	GRCh37
NC_000020.9:g.3600582C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1648G>A MANE Select	ENSP00000348912.3:p.Asp550Asn
ENST00000350009.6:c.1648G>A	ENSP00000322550.5:p.Asp550Asn
ENST00000356518.6:c.1648G>A	ENSP00000348912.2:p.Asp550Asn
ENST00000379861.8:c.1648G>A	ENSP00000369190.4:p.Asp550Asn
ENST00000466620.5:n.1287G>A
ENST00000617732.1:c.*632-478G>A	ENSP00000483343.1:n.*632-478G>A
ENST00000619289.4:c.1288G>A	ENSP00000484600.1:p.Asp430Asn
NM_001282447.1:c.1648G>A	NP_001269376.1:p.Asp550Asn
NM_025220.3:c.1648G>A	NP_079496.1:p.Asp550Asn
NM_153202.2:c.1648G>A	NP_694882.1:p.Asp550Asn
XM_005260843.1:c.1687G>A	XP_005260900.1:p.Asp563Asn
XM_006723639.1:c.1687G>A	XP_006723702.1:p.Asp563Asn
XM_006723640.1:c.1678G>A	XP_006723703.1:p.Asp560Asn
XM_011529366.1:c.1684G>A	XP_011527668.1:p.Asp562Asn
XM_011529367.1:c.1645G>A	XP_011527669.1:p.Asp549Asn
XM_011529368.1:c.1687G>A	XP_011527670.1:p.Asp563Asn
XM_011529369.1:c.1655G>A	XP_011527671.1:p.Arg552Lys
XM_011529370.1:c.1655G>A	XP_011527672.1:p.Arg552Lys
XM_011529373.1:c.685G>A	XP_011527675.1:p.Asp229Asn
XR_937151.1:n.1791G>A
XR_937152.1:n.1791G>A
XR_937153.1:n.1672G>A
XR_937154.1:n.1672G>A
XR_937155.1:n.1593G>A
XR_937157.1:n.1595G>A
NM_001282447.2:c.1648G>A	NP_001269376.1:p.Asp550Asn
NM_025220.4:c.1648G>A	NP_079496.1:p.Asp550Asn
NM_153202.3:c.1648G>A	NP_694882.1:p.Asp550Asn
XM_011529373.2:c.685G>A	XP_011527675.1:p.Asp229Asn
XR_001754405.1:n.1759G>A
XR_002958534.1:n.1868G>A
NM_001282447.3:c.1648G>A	NP_001269376.1:p.Asp550Asn
NM_025220.5:c.1648G>A MANE Select	NP_079496.1:p.Asp550Asn
NM_153202.4:c.1648G>A	NP_694882.1:p.Asp550Asn