Canonical Allele Identifier: CA408103564

Gene: ADAM33

Linked Data

• gnomAD v4: 20-3669333-C-A
• COSMIC: COSM1411610
• MyVariant Identifiers: chr20:g.3649980C>A (hg19) ; chr20:g.3669333C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669333C>A , CM000682.2:g.3669333C>A	GRCh38
NC_000020.10:g.3649980C>A , CM000682.1:g.3649980C>A	GRCh37
NC_000020.9:g.3597980C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2370G>T MANE Select	ENSP00000348912.3:p.Glu790Asp
ENST00000350009.6:c.2292G>T	ENSP00000322550.5:p.Glu764Asp
ENST00000356518.6:c.2370G>T	ENSP00000348912.2:p.Glu790Asp
ENST00000379861.8:c.2370G>T	ENSP00000369190.4:p.Glu790Asp
ENST00000466620.5:n.1931G>T
ENST00000483362.1:n.1293G>T
ENST00000617732.1:c.*1057G>T	ENSP00000483343.1:n.*1057G>T
ENST00000619289.4:c.2010G>T	ENSP00000484600.1:p.Glu670Asp
NM_001282447.1:c.2370G>T	NP_001269376.1:p.Glu790Asp
NM_025220.3:c.2370G>T	NP_079496.1:p.Glu790Asp
NM_153202.2:c.2292G>T	NP_694882.1:p.Glu764Asp
XM_005260843.1:c.2409G>T	XP_005260900.1:p.Glu803Asp
XM_006723639.1:c.2409G>T	XP_006723702.1:p.Glu803Asp
XM_006723640.1:c.2400G>T	XP_006723703.1:p.Glu800Asp
XM_011529366.1:c.2406G>T	XP_011527668.1:p.Glu802Asp
XM_011529367.1:c.2367G>T	XP_011527669.1:p.Glu789Asp
XM_011529368.1:c.2331G>T	XP_011527670.1:p.Glu777Asp
XM_011529373.1:c.1407G>T	XP_011527675.1:p.Glu469Asp
XR_937151.1:n.2421G>T
XR_937152.1:n.2421G>T
XR_937153.1:n.2394G>T
XR_937154.1:n.2394G>T
XR_937155.1:n.2315G>T
XR_937157.1:n.2317G>T
NM_001282447.2:c.2370G>T	NP_001269376.1:p.Glu790Asp
NM_025220.4:c.2370G>T	NP_079496.1:p.Glu790Asp
NM_153202.3:c.2292G>T	NP_694882.1:p.Glu764Asp
XM_011529373.2:c.1407G>T	XP_011527675.1:p.Glu469Asp
XR_001754405.1:n.2481G>T
XR_002958534.1:n.2590G>T
NM_001282447.3:c.2370G>T	NP_001269376.1:p.Glu790Asp
NM_025220.5:c.2370G>T MANE Select	NP_079496.1:p.Glu790Asp
NM_153202.4:c.2292G>T	NP_694882.1:p.Glu764Asp