Canonical Allele Identifier: CA9745072

Gene: ADAM33

Linked Data

• dbSNP Id: rs769009335
• ExAC: 20:3650276 T / A
• gnomAD v2: 20-3650276-T-A
• gnomAD v4: 20-3669629-T-A
• MyVariant Identifiers: chr20:g.3650276T>A (hg19) ; chr20:g.3669629T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669629T>A , CM000682.2:g.3669629T>A	GRCh38
NC_000020.10:g.3650276T>A , CM000682.1:g.3650276T>A	GRCh37
NC_000020.9:g.3598276T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.2249A>T MANE Select	ENSP00000348912.3:p.Asp750Val
ENST00000350009.6:c.2171A>T	ENSP00000322550.5:p.Asp724Val
ENST00000356518.6:c.2249A>T	ENSP00000348912.2:p.Asp750Val
ENST00000379861.8:c.2249A>T	ENSP00000369190.4:p.Asp750Val
ENST00000466620.5:n.1810A>T
ENST00000483362.1:n.997A>T
ENST00000617732.1:c.*936A>T	ENSP00000483343.1:n.*936A>T
ENST00000619289.4:c.1889A>T	ENSP00000484600.1:p.Asp630Val
NM_001282447.1:c.2249A>T	NP_001269376.1:p.Asp750Val
NM_025220.3:c.2249A>T	NP_079496.1:p.Asp750Val
NM_153202.2:c.2171A>T	NP_694882.1:p.Asp724Val
XM_005260843.1:c.2288A>T	XP_005260900.1:p.Asp763Val
XM_006723639.1:c.2288A>T	XP_006723702.1:p.Asp763Val
XM_006723640.1:c.2279A>T	XP_006723703.1:p.Asp760Val
XM_011529366.1:c.2285A>T	XP_011527668.1:p.Asp762Val
XM_011529367.1:c.2246A>T	XP_011527669.1:p.Asp749Val
XM_011529368.1:c.2210A>T	XP_011527670.1:p.Asp737Val
XM_011529373.1:c.1286A>T	XP_011527675.1:p.Asp429Val
XR_937151.1:n.2384-259A>T
XR_937152.1:n.2384-259A>T
XR_937153.1:n.2273A>T
XR_937154.1:n.2273A>T
XR_937155.1:n.2194A>T
XR_937157.1:n.2196A>T
NM_001282447.2:c.2249A>T	NP_001269376.1:p.Asp750Val
NM_025220.4:c.2249A>T	NP_079496.1:p.Asp750Val
NM_153202.3:c.2171A>T	NP_694882.1:p.Asp724Val
XM_011529373.2:c.1286A>T	XP_011527675.1:p.Asp429Val
XR_001754405.1:n.2360A>T
XR_002958534.1:n.2469A>T
NM_001282447.3:c.2249A>T	NP_001269376.1:p.Asp750Val
NM_025220.5:c.2249A>T MANE Select	NP_079496.1:p.Asp750Val
NM_153202.4:c.2171A>T	NP_694882.1:p.Asp724Val