Canonical Allele Identifier: CA9745055

Gene: ADAM33

Linked Data

• dbSNP Id: rs764614141
• ExAC: 20:3650214 T / C
• gnomAD v2: 20-3650214-T-C
• gnomAD v4: 20-3669567-T-C
• MyVariant Identifiers: chr20:g.3650214T>C (hg19) ; chr20:g.3669567T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669567T>C , CM000682.2:g.3669567T>C	GRCh38
NC_000020.10:g.3650214T>C , CM000682.1:g.3650214T>C	GRCh37
NC_000020.9:g.3598214T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2311A>G MANE Select	ENSP00000348912.3:p.Thr771Ala
ENST00000350009.6:c.2233A>G	ENSP00000322550.5:p.Thr745Ala
ENST00000356518.6:c.2311A>G	ENSP00000348912.2:p.Thr771Ala
ENST00000379861.8:c.2311A>G	ENSP00000369190.4:p.Thr771Ala
ENST00000466620.5:n.1872A>G
ENST00000483362.1:n.1059A>G
ENST00000617732.1:c.*998A>G	ENSP00000483343.1:n.*998A>G
ENST00000619289.4:c.1951A>G	ENSP00000484600.1:p.Thr651Ala
NM_001282447.1:c.2311A>G	NP_001269376.1:p.Thr771Ala
NM_025220.3:c.2311A>G	NP_079496.1:p.Thr771Ala
NM_153202.2:c.2233A>G	NP_694882.1:p.Thr745Ala
XM_005260843.1:c.2350A>G	XP_005260900.1:p.Thr784Ala
XM_006723639.1:c.2350A>G	XP_006723702.1:p.Thr784Ala
XM_006723640.1:c.2341A>G	XP_006723703.1:p.Thr781Ala
XM_011529366.1:c.2347A>G	XP_011527668.1:p.Thr783Ala
XM_011529367.1:c.2308A>G	XP_011527669.1:p.Thr770Ala
XM_011529368.1:c.2272A>G	XP_011527670.1:p.Thr758Ala
XM_011529373.1:c.1348A>G	XP_011527675.1:p.Thr450Ala
XR_937151.1:n.2384-197A>G
XR_937152.1:n.2384-197A>G
XR_937153.1:n.2335A>G
XR_937154.1:n.2335A>G
XR_937155.1:n.2256A>G
XR_937157.1:n.2258A>G
NM_001282447.2:c.2311A>G	NP_001269376.1:p.Thr771Ala
NM_025220.4:c.2311A>G	NP_079496.1:p.Thr771Ala
NM_153202.3:c.2233A>G	NP_694882.1:p.Thr745Ala
XM_011529373.2:c.1348A>G	XP_011527675.1:p.Thr450Ala
XR_001754405.1:n.2422A>G
XR_002958534.1:n.2531A>G
NM_001282447.3:c.2311A>G	NP_001269376.1:p.Thr771Ala
NM_025220.5:c.2311A>G MANE Select	NP_079496.1:p.Thr771Ala
NM_153202.4:c.2233A>G	NP_694882.1:p.Thr745Ala