Canonical Allele Identifier: CA9745031

Gene: ADAM33

Linked Data

• dbSNP Id: rs776714215
• ExAC: 20:3649981 T / G
• gnomAD v2: 20-3649981-T-G
• gnomAD v3: 20-3669334-T-G
• gnomAD v4: 20-3669334-T-G
• MyVariant Identifiers: chr20:g.3649981T>G (hg19) ; chr20:g.3669334T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669334T>G , CM000682.2:g.3669334T>G	GRCh38
NC_000020.10:g.3649981T>G , CM000682.1:g.3649981T>G	GRCh37
NC_000020.9:g.3597981T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.2369A>C MANE Select	ENSP00000348912.3:p.Glu790Ala
ENST00000350009.6:c.2291A>C	ENSP00000322550.5:p.Glu764Ala
ENST00000356518.6:c.2369A>C	ENSP00000348912.2:p.Glu790Ala
ENST00000379861.8:c.2369A>C	ENSP00000369190.4:p.Glu790Ala
ENST00000466620.5:n.1930A>C
ENST00000483362.1:n.1292A>C
ENST00000617732.1:c.*1056A>C	ENSP00000483343.1:n.*1056A>C
ENST00000619289.4:c.2009A>C	ENSP00000484600.1:p.Glu670Ala
NM_001282447.1:c.2369A>C	NP_001269376.1:p.Glu790Ala
NM_025220.3:c.2369A>C	NP_079496.1:p.Glu790Ala
NM_153202.2:c.2291A>C	NP_694882.1:p.Glu764Ala
XM_005260843.1:c.2408A>C	XP_005260900.1:p.Glu803Ala
XM_006723639.1:c.2408A>C	XP_006723702.1:p.Glu803Ala
XM_006723640.1:c.2399A>C	XP_006723703.1:p.Glu800Ala
XM_011529366.1:c.2405A>C	XP_011527668.1:p.Glu802Ala
XM_011529367.1:c.2366A>C	XP_011527669.1:p.Glu789Ala
XM_011529368.1:c.2330A>C	XP_011527670.1:p.Glu777Ala
XM_011529373.1:c.1406A>C	XP_011527675.1:p.Glu469Ala
XR_937151.1:n.2420A>C
XR_937152.1:n.2420A>C
XR_937153.1:n.2393A>C
XR_937154.1:n.2393A>C
XR_937155.1:n.2314A>C
XR_937157.1:n.2316A>C
NM_001282447.2:c.2369A>C	NP_001269376.1:p.Glu790Ala
NM_025220.4:c.2369A>C	NP_079496.1:p.Glu790Ala
NM_153202.3:c.2291A>C	NP_694882.1:p.Glu764Ala
XM_011529373.2:c.1406A>C	XP_011527675.1:p.Glu469Ala
XR_001754405.1:n.2480A>C
XR_002958534.1:n.2589A>C
NM_001282447.3:c.2369A>C	NP_001269376.1:p.Glu790Ala
NM_025220.5:c.2369A>C MANE Select	NP_079496.1:p.Glu790Ala
NM_153202.4:c.2291A>C	NP_694882.1:p.Glu764Ala