Canonical Allele Identifier: CA9745050

Gene: ADAM33

Linked Data

• dbSNP Id: rs559005355
• ExAC: 20:3650194 C / T
• gnomAD v2: 20-3650194-C-T
• gnomAD v3: 20-3669547-C-T
• gnomAD v4: 20-3669547-C-T
• MyVariant Identifiers: chr20:g.3650194C>T (hg19) ; chr20:g.3669547C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669547C>T , CM000682.2:g.3669547C>T	GRCh38
NC_000020.10:g.3650194C>T , CM000682.1:g.3650194C>T	GRCh37
NC_000020.9:g.3598194C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2331G>A MANE Select	ENSP00000348912.3:p.Leu777=
ENST00000350009.6:c.2253G>A	ENSP00000322550.5:p.Leu751=
ENST00000356518.6:c.2331G>A	ENSP00000348912.2:p.Leu777=
ENST00000379861.8:c.2331G>A	ENSP00000369190.4:p.Leu777=
ENST00000466620.5:n.1892G>A
ENST00000483362.1:n.1079G>A
ENST00000617732.1:c.*1018G>A	ENSP00000483343.1:n.*1018G>A
ENST00000619289.4:c.1971G>A	ENSP00000484600.1:p.Leu657=
NM_001282447.1:c.2331G>A	NP_001269376.1:p.Leu777=
NM_025220.3:c.2331G>A	NP_079496.1:p.Leu777=
NM_153202.2:c.2253G>A	NP_694882.1:p.Leu751=
XM_005260843.1:c.2370G>A	XP_005260900.1:p.Leu790=
XM_006723639.1:c.2370G>A	XP_006723702.1:p.Leu790=
XM_006723640.1:c.2361G>A	XP_006723703.1:p.Leu787=
XM_011529366.1:c.2367G>A	XP_011527668.1:p.Leu789=
XM_011529367.1:c.2328G>A	XP_011527669.1:p.Leu776=
XM_011529368.1:c.2292G>A	XP_011527670.1:p.Leu764=
XM_011529373.1:c.1368G>A	XP_011527675.1:p.Leu456=
XR_937151.1:n.2384-177G>A
XR_937152.1:n.2384-177G>A
XR_937153.1:n.2355G>A
XR_937154.1:n.2355G>A
XR_937155.1:n.2276G>A
XR_937157.1:n.2278G>A
NM_001282447.2:c.2331G>A	NP_001269376.1:p.Leu777=
NM_025220.4:c.2331G>A	NP_079496.1:p.Leu777=
NM_153202.3:c.2253G>A	NP_694882.1:p.Leu751=
XM_011529373.2:c.1368G>A	XP_011527675.1:p.Leu456=
XR_001754405.1:n.2442G>A
XR_002958534.1:n.2551G>A
NM_001282447.3:c.2331G>A	NP_001269376.1:p.Leu777=
NM_025220.5:c.2331G>A MANE Select	NP_079496.1:p.Leu777=
NM_153202.4:c.2253G>A	NP_694882.1:p.Leu751=