Canonical Allele Identifier: CA408103720

Gene: ADAM33

Linked Data

• gnomAD v4: 20-3669548-A-G
• MyVariant Identifiers: chr20:g.3650195A>G (hg19) ; chr20:g.3669548A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669548A>G , CM000682.2:g.3669548A>G	GRCh38
NC_000020.10:g.3650195A>G , CM000682.1:g.3650195A>G	GRCh37
NC_000020.9:g.3598195A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2330T>C MANE Select	ENSP00000348912.3:p.Leu777Pro
ENST00000350009.6:c.2252T>C	ENSP00000322550.5:p.Leu751Pro
ENST00000356518.6:c.2330T>C	ENSP00000348912.2:p.Leu777Pro
ENST00000379861.8:c.2330T>C	ENSP00000369190.4:p.Leu777Pro
ENST00000466620.5:n.1891T>C
ENST00000483362.1:n.1078T>C
ENST00000617732.1:c.*1017T>C	ENSP00000483343.1:n.*1017T>C
ENST00000619289.4:c.1970T>C	ENSP00000484600.1:p.Leu657Pro
NM_001282447.1:c.2330T>C	NP_001269376.1:p.Leu777Pro
NM_025220.3:c.2330T>C	NP_079496.1:p.Leu777Pro
NM_153202.2:c.2252T>C	NP_694882.1:p.Leu751Pro
XM_005260843.1:c.2369T>C	XP_005260900.1:p.Leu790Pro
XM_006723639.1:c.2369T>C	XP_006723702.1:p.Leu790Pro
XM_006723640.1:c.2360T>C	XP_006723703.1:p.Leu787Pro
XM_011529366.1:c.2366T>C	XP_011527668.1:p.Leu789Pro
XM_011529367.1:c.2327T>C	XP_011527669.1:p.Leu776Pro
XM_011529368.1:c.2291T>C	XP_011527670.1:p.Leu764Pro
XM_011529373.1:c.1367T>C	XP_011527675.1:p.Leu456Pro
XR_937151.1:n.2384-178T>C
XR_937152.1:n.2384-178T>C
XR_937153.1:n.2354T>C
XR_937154.1:n.2354T>C
XR_937155.1:n.2275T>C
XR_937157.1:n.2277T>C
NM_001282447.2:c.2330T>C	NP_001269376.1:p.Leu777Pro
NM_025220.4:c.2330T>C	NP_079496.1:p.Leu777Pro
NM_153202.3:c.2252T>C	NP_694882.1:p.Leu751Pro
XM_011529373.2:c.1367T>C	XP_011527675.1:p.Leu456Pro
XR_001754405.1:n.2441T>C
XR_002958534.1:n.2550T>C
NM_001282447.3:c.2330T>C	NP_001269376.1:p.Leu777Pro
NM_025220.5:c.2330T>C MANE Select	NP_079496.1:p.Leu777Pro
NM_153202.4:c.2252T>C	NP_694882.1:p.Leu751Pro