Canonical Allele Identifier: CA408103605

Gene: ADAM33

Linked Data

• dbSNP Id: rs1388046339
• gnomAD v2: 20-3649998-C-G
• gnomAD v3: 20-3669351-C-G
• gnomAD v4: 20-3669351-C-G
• MyVariant Identifiers: chr20:g.3649998C>G (hg19) ; chr20:g.3669351C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669351C>G , CM000682.2:g.3669351C>G	GRCh38
NC_000020.10:g.3649998C>G , CM000682.1:g.3649998C>G	GRCh37
NC_000020.9:g.3597998C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2352G>C MANE Select	ENSP00000348912.3:p.Glu784Asp
ENST00000350009.6:c.2274G>C	ENSP00000322550.5:p.Glu758Asp
ENST00000356518.6:c.2352G>C	ENSP00000348912.2:p.Glu784Asp
ENST00000379861.8:c.2352G>C	ENSP00000369190.4:p.Glu784Asp
ENST00000466620.5:n.1913G>C
ENST00000483362.1:n.1275G>C
ENST00000617732.1:c.*1039G>C	ENSP00000483343.1:n.*1039G>C
ENST00000619289.4:c.1992G>C	ENSP00000484600.1:p.Glu664Asp
NM_001282447.1:c.2352G>C	NP_001269376.1:p.Glu784Asp
NM_025220.3:c.2352G>C	NP_079496.1:p.Glu784Asp
NM_153202.2:c.2274G>C	NP_694882.1:p.Glu758Asp
XM_005260843.1:c.2391G>C	XP_005260900.1:p.Glu797Asp
XM_006723639.1:c.2391G>C	XP_006723702.1:p.Glu797Asp
XM_006723640.1:c.2382G>C	XP_006723703.1:p.Glu794Asp
XM_011529366.1:c.2388G>C	XP_011527668.1:p.Glu796Asp
XM_011529367.1:c.2349G>C	XP_011527669.1:p.Glu783Asp
XM_011529368.1:c.2313G>C	XP_011527670.1:p.Glu771Asp
XM_011529373.1:c.1389G>C	XP_011527675.1:p.Glu463Asp
XR_937151.1:n.2403G>C
XR_937152.1:n.2403G>C
XR_937153.1:n.2376G>C
XR_937154.1:n.2376G>C
XR_937155.1:n.2297G>C
XR_937157.1:n.2299G>C
NM_001282447.2:c.2352G>C	NP_001269376.1:p.Glu784Asp
NM_025220.4:c.2352G>C	NP_079496.1:p.Glu784Asp
NM_153202.3:c.2274G>C	NP_694882.1:p.Glu758Asp
XM_011529373.2:c.1389G>C	XP_011527675.1:p.Glu463Asp
XR_001754405.1:n.2463G>C
XR_002958534.1:n.2572G>C
NM_001282447.3:c.2352G>C	NP_001269376.1:p.Glu784Asp
NM_025220.5:c.2352G>C MANE Select	NP_079496.1:p.Glu784Asp
NM_153202.4:c.2274G>C	NP_694882.1:p.Glu758Asp