Canonical Allele Identifier: CA9745278

Gene: ADAM33

Linked Data

• ClinVar Variation Id: 2275513
• ClinVar RCV Id: RCV004130650
• dbSNP Id: rs766044302
• ExAC: 20:3652546 G / C
• gnomAD v2: 20-3652546-G-C
• gnomAD v4: 20-3671899-G-C
• MyVariant Identifiers: chr20:g.3652546G>C (hg19) ; chr20:g.3671899G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671899G>C , CM000682.2:g.3671899G>C	GRCh38
NC_000020.10:g.3652546G>C , CM000682.1:g.3652546G>C	GRCh37
NC_000020.9:g.3600546G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1684C>G MANE Select	ENSP00000348912.3:p.His562Asp
ENST00000350009.6:c.1684C>G	ENSP00000322550.5:p.His562Asp
ENST00000356518.6:c.1684C>G	ENSP00000348912.2:p.His562Asp
ENST00000379861.8:c.1684C>G	ENSP00000369190.4:p.His562Asp
ENST00000466620.5:n.1323C>G
ENST00000617732.1:c.*632-442C>G	ENSP00000483343.1:n.*632-442C>G
ENST00000619289.4:c.1324C>G	ENSP00000484600.1:p.His442Asp
NM_001282447.1:c.1684C>G	NP_001269376.1:p.His562Asp
NM_025220.3:c.1684C>G	NP_079496.1:p.His562Asp
NM_153202.2:c.1684C>G	NP_694882.1:p.His562Asp
XM_005260843.1:c.1723C>G	XP_005260900.1:p.His575Asp
XM_006723639.1:c.1723C>G	XP_006723702.1:p.His575Asp
XM_006723640.1:c.1714C>G	XP_006723703.1:p.His572Asp
XM_011529366.1:c.1720C>G	XP_011527668.1:p.His574Asp
XM_011529367.1:c.1681C>G	XP_011527669.1:p.His561Asp
XM_011529368.1:c.1723C>G	XP_011527670.1:p.His575Asp
XM_011529369.1:c.1691C>G	XP_011527671.1:p.Pro564Arg
XM_011529370.1:c.1691C>G	XP_011527672.1:p.Pro564Arg
XM_011529373.1:c.721C>G	XP_011527675.1:p.His241Asp
XR_937151.1:n.1827C>G
XR_937152.1:n.1827C>G
XR_937153.1:n.1708C>G
XR_937154.1:n.1708C>G
XR_937155.1:n.1629C>G
XR_937157.1:n.1631C>G
NM_001282447.2:c.1684C>G	NP_001269376.1:p.His562Asp
NM_025220.4:c.1684C>G	NP_079496.1:p.His562Asp
NM_153202.3:c.1684C>G	NP_694882.1:p.His562Asp
XM_011529373.2:c.721C>G	XP_011527675.1:p.His241Asp
XR_001754405.1:n.1795C>G
XR_002958534.1:n.1904C>G
NM_001282447.3:c.1684C>G	NP_001269376.1:p.His562Asp
NM_025220.5:c.1684C>G MANE Select	NP_079496.1:p.His562Asp
NM_153202.4:c.1684C>G	NP_694882.1:p.His562Asp