Canonical Allele Identifier: CA408103825

Gene: ADAM33

Linked Data

• dbSNP Id: rs147487185
• gnomAD v2: 20-3650244-C-A
• gnomAD v3: 20-3669597-C-A
• gnomAD v4: 20-3669597-C-A
• MyVariant Identifiers: chr20:g.3650244C>A (hg19) ; chr20:g.3669597C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669597C>A , CM000682.2:g.3669597C>A	GRCh38
NC_000020.10:g.3650244C>A , CM000682.1:g.3650244C>A	GRCh37
NC_000020.9:g.3598244C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2281G>T MANE Select	ENSP00000348912.3:p.Val761Phe
ENST00000350009.6:c.2203G>T	ENSP00000322550.5:p.Val735Phe
ENST00000356518.6:c.2281G>T	ENSP00000348912.2:p.Val761Phe
ENST00000379861.8:c.2281G>T	ENSP00000369190.4:p.Val761Phe
ENST00000466620.5:n.1842G>T
ENST00000483362.1:n.1029G>T
ENST00000617732.1:c.*968G>T	ENSP00000483343.1:n.*968G>T
ENST00000619289.4:c.1921G>T	ENSP00000484600.1:p.Val641Phe
NM_001282447.1:c.2281G>T	NP_001269376.1:p.Val761Phe
NM_025220.3:c.2281G>T	NP_079496.1:p.Val761Phe
NM_153202.2:c.2203G>T	NP_694882.1:p.Val735Phe
XM_005260843.1:c.2320G>T	XP_005260900.1:p.Val774Phe
XM_006723639.1:c.2320G>T	XP_006723702.1:p.Val774Phe
XM_006723640.1:c.2311G>T	XP_006723703.1:p.Val771Phe
XM_011529366.1:c.2317G>T	XP_011527668.1:p.Val773Phe
XM_011529367.1:c.2278G>T	XP_011527669.1:p.Val760Phe
XM_011529368.1:c.2242G>T	XP_011527670.1:p.Val748Phe
XM_011529373.1:c.1318G>T	XP_011527675.1:p.Val440Phe
XR_937151.1:n.2384-227G>T
XR_937152.1:n.2384-227G>T
XR_937153.1:n.2305G>T
XR_937154.1:n.2305G>T
XR_937155.1:n.2226G>T
XR_937157.1:n.2228G>T
NM_001282447.2:c.2281G>T	NP_001269376.1:p.Val761Phe
NM_025220.4:c.2281G>T	NP_079496.1:p.Val761Phe
NM_153202.3:c.2203G>T	NP_694882.1:p.Val735Phe
XM_011529373.2:c.1318G>T	XP_011527675.1:p.Val440Phe
XR_001754405.1:n.2392G>T
XR_002958534.1:n.2501G>T
NM_001282447.3:c.2281G>T	NP_001269376.1:p.Val761Phe
NM_025220.5:c.2281G>T MANE Select	NP_079496.1:p.Val761Phe
NM_153202.4:c.2203G>T	NP_694882.1:p.Val735Phe