Canonical Allele Identifier: CA9745033

Gene: ADAM33

Linked Data

• ClinVar Variation Id: 2536309
• ClinVar RCV Id: RCV003266232
• dbSNP Id: rs200612795
• ExAC: 20:3649994 T / A
• gnomAD v2: 20-3649994-T-A
• gnomAD v3: 20-3669347-T-A
• gnomAD v4: 20-3669347-T-A
• MyVariant Identifiers: chr20:g.3649994T>A (hg19) ; chr20:g.3669347T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669347T>A , CM000682.2:g.3669347T>A	GRCh38
NC_000020.10:g.3649994T>A , CM000682.1:g.3649994T>A	GRCh37
NC_000020.9:g.3597994T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2356A>T MANE Select	ENSP00000348912.3:p.Ser786Cys
ENST00000350009.6:c.2278A>T	ENSP00000322550.5:p.Ser760Cys
ENST00000356518.6:c.2356A>T	ENSP00000348912.2:p.Ser786Cys
ENST00000379861.8:c.2356A>T	ENSP00000369190.4:p.Ser786Cys
ENST00000466620.5:n.1917A>T
ENST00000483362.1:n.1279A>T
ENST00000617732.1:c.*1043A>T	ENSP00000483343.1:n.*1043A>T
ENST00000619289.4:c.1996A>T	ENSP00000484600.1:p.Ser666Cys
NM_001282447.1:c.2356A>T	NP_001269376.1:p.Ser786Cys
NM_025220.3:c.2356A>T	NP_079496.1:p.Ser786Cys
NM_153202.2:c.2278A>T	NP_694882.1:p.Ser760Cys
XM_005260843.1:c.2395A>T	XP_005260900.1:p.Ser799Cys
XM_006723639.1:c.2395A>T	XP_006723702.1:p.Ser799Cys
XM_006723640.1:c.2386A>T	XP_006723703.1:p.Ser796Cys
XM_011529366.1:c.2392A>T	XP_011527668.1:p.Ser798Cys
XM_011529367.1:c.2353A>T	XP_011527669.1:p.Ser785Cys
XM_011529368.1:c.2317A>T	XP_011527670.1:p.Ser773Cys
XM_011529373.1:c.1393A>T	XP_011527675.1:p.Ser465Cys
XR_937151.1:n.2407A>T
XR_937152.1:n.2407A>T
XR_937153.1:n.2380A>T
XR_937154.1:n.2380A>T
XR_937155.1:n.2301A>T
XR_937157.1:n.2303A>T
NM_001282447.2:c.2356A>T	NP_001269376.1:p.Ser786Cys
NM_025220.4:c.2356A>T	NP_079496.1:p.Ser786Cys
NM_153202.3:c.2278A>T	NP_694882.1:p.Ser760Cys
XM_011529373.2:c.1393A>T	XP_011527675.1:p.Ser465Cys
XR_001754405.1:n.2467A>T
XR_002958534.1:n.2576A>T
NM_001282447.3:c.2356A>T	NP_001269376.1:p.Ser786Cys
NM_025220.5:c.2356A>T MANE Select	NP_079496.1:p.Ser786Cys
NM_153202.4:c.2278A>T	NP_694882.1:p.Ser760Cys