Canonical Allele Identifier: CA9745280

Gene: ADAM33

Linked Data

• dbSNP Id: rs759331437
• ExAC: 20:3652552 C / T
• gnomAD v2: 20-3652552-C-T
• gnomAD v4: 20-3671905-C-T
• MyVariant Identifiers: chr20:g.3652552C>T (hg19) ; chr20:g.3671905C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671905C>T , CM000682.2:g.3671905C>T	GRCh38
NC_000020.10:g.3652552C>T , CM000682.1:g.3652552C>T	GRCh37
NC_000020.9:g.3600552C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1678G>A MANE Select	ENSP00000348912.3:p.Glu560Lys
ENST00000350009.6:c.1678G>A	ENSP00000322550.5:p.Glu560Lys
ENST00000356518.6:c.1678G>A	ENSP00000348912.2:p.Glu560Lys
ENST00000379861.8:c.1678G>A	ENSP00000369190.4:p.Glu560Lys
ENST00000466620.5:n.1317G>A
ENST00000617732.1:c.*632-448G>A	ENSP00000483343.1:n.*632-448G>A
ENST00000619289.4:c.1318G>A	ENSP00000484600.1:p.Glu440Lys
NM_001282447.1:c.1678G>A	NP_001269376.1:p.Glu560Lys
NM_025220.3:c.1678G>A	NP_079496.1:p.Glu560Lys
NM_153202.2:c.1678G>A	NP_694882.1:p.Glu560Lys
XM_005260843.1:c.1717G>A	XP_005260900.1:p.Glu573Lys
XM_006723639.1:c.1717G>A	XP_006723702.1:p.Glu573Lys
XM_006723640.1:c.1708G>A	XP_006723703.1:p.Glu570Lys
XM_011529366.1:c.1714G>A	XP_011527668.1:p.Glu572Lys
XM_011529367.1:c.1675G>A	XP_011527669.1:p.Glu559Lys
XM_011529368.1:c.1717G>A	XP_011527670.1:p.Glu573Lys
XM_011529369.1:c.1685G>A	XP_011527671.1:p.Arg562Gln
XM_011529370.1:c.1685G>A	XP_011527672.1:p.Arg562Gln
XM_011529373.1:c.715G>A	XP_011527675.1:p.Glu239Lys
XR_937151.1:n.1821G>A
XR_937152.1:n.1821G>A
XR_937153.1:n.1702G>A
XR_937154.1:n.1702G>A
XR_937155.1:n.1623G>A
XR_937157.1:n.1625G>A
NM_001282447.2:c.1678G>A	NP_001269376.1:p.Glu560Lys
NM_025220.4:c.1678G>A	NP_079496.1:p.Glu560Lys
NM_153202.3:c.1678G>A	NP_694882.1:p.Glu560Lys
XM_011529373.2:c.715G>A	XP_011527675.1:p.Glu239Lys
XR_001754405.1:n.1789G>A
XR_002958534.1:n.1898G>A
NM_001282447.3:c.1678G>A	NP_001269376.1:p.Glu560Lys
NM_025220.5:c.1678G>A MANE Select	NP_079496.1:p.Glu560Lys
NM_153202.4:c.1678G>A	NP_694882.1:p.Glu560Lys