Canonical Allele Identifier: CA408103569

Gene: ADAM33

Linked Data

• MyVariant Identifiers: chr20:g.3649982C>G (hg19) ; chr20:g.3669335C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669335C>G , CM000682.2:g.3669335C>G	GRCh38
NC_000020.10:g.3649982C>G , CM000682.1:g.3649982C>G	GRCh37
NC_000020.9:g.3597982C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2368G>C MANE Select	ENSP00000348912.3:p.Glu790Gln
ENST00000350009.6:c.2290G>C	ENSP00000322550.5:p.Glu764Gln
ENST00000356518.6:c.2368G>C	ENSP00000348912.2:p.Glu790Gln
ENST00000379861.8:c.2368G>C	ENSP00000369190.4:p.Glu790Gln
ENST00000466620.5:n.1929G>C
ENST00000483362.1:n.1291G>C
ENST00000617732.1:c.*1055G>C	ENSP00000483343.1:n.*1055G>C
ENST00000619289.4:c.2008G>C	ENSP00000484600.1:p.Glu670Gln
NM_001282447.1:c.2368G>C	NP_001269376.1:p.Glu790Gln
NM_025220.3:c.2368G>C	NP_079496.1:p.Glu790Gln
NM_153202.2:c.2290G>C	NP_694882.1:p.Glu764Gln
XM_005260843.1:c.2407G>C	XP_005260900.1:p.Glu803Gln
XM_006723639.1:c.2407G>C	XP_006723702.1:p.Glu803Gln
XM_006723640.1:c.2398G>C	XP_006723703.1:p.Glu800Gln
XM_011529366.1:c.2404G>C	XP_011527668.1:p.Glu802Gln
XM_011529367.1:c.2365G>C	XP_011527669.1:p.Glu789Gln
XM_011529368.1:c.2329G>C	XP_011527670.1:p.Glu777Gln
XM_011529373.1:c.1405G>C	XP_011527675.1:p.Glu469Gln
XR_937151.1:n.2419G>C
XR_937152.1:n.2419G>C
XR_937153.1:n.2392G>C
XR_937154.1:n.2392G>C
XR_937155.1:n.2313G>C
XR_937157.1:n.2315G>C
NM_001282447.2:c.2368G>C	NP_001269376.1:p.Glu790Gln
NM_025220.4:c.2368G>C	NP_079496.1:p.Glu790Gln
NM_153202.3:c.2290G>C	NP_694882.1:p.Glu764Gln
XM_011529373.2:c.1405G>C	XP_011527675.1:p.Glu469Gln
XR_001754405.1:n.2479G>C
XR_002958534.1:n.2588G>C
NM_001282447.3:c.2368G>C	NP_001269376.1:p.Glu790Gln
NM_025220.5:c.2368G>C MANE Select	NP_079496.1:p.Glu790Gln
NM_153202.4:c.2290G>C	NP_694882.1:p.Glu764Gln