Canonical Allele Identifier: CA9745198

Gene: ADAM33

Linked Data

• dbSNP Id: rs375389619
• ExAC: 20:3652128 G / A
• gnomAD v2: 20-3652128-G-A
• gnomAD v3: 20-3671481-G-A
• gnomAD v4: 20-3671481-G-A
• MyVariant Identifiers: chr20:g.3652128G>A (hg19) ; chr20:g.3671481G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671481G>A , CM000682.2:g.3671481G>A	GRCh38
NC_000020.10:g.3652128G>A , CM000682.1:g.3652128G>A	GRCh37
NC_000020.9:g.3600128G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.1921C>T MANE Select	ENSP00000348912.3:p.Arg641Cys
ENST00000350009.6:c.1905+100C>T	ENSP00000322550.5:n.1905+100C>T
ENST00000356518.6:c.1921C>T	ENSP00000348912.2:p.Arg641Cys
ENST00000379861.8:c.1921C>T	ENSP00000369190.4:p.Arg641Cys
ENST00000466620.5:n.1544+100C>T
ENST00000617732.1:c.*632-24C>T	ENSP00000483343.1:n.*632-24C>T
ENST00000619289.4:c.1561C>T	ENSP00000484600.1:p.Arg521Cys
NM_001282447.1:c.1921C>T	NP_001269376.1:p.Arg641Cys
NM_025220.3:c.1921C>T	NP_079496.1:p.Arg641Cys
NM_153202.2:c.1905+100C>T	NP_694882.1:n.1905+100C>T
XM_005260843.1:c.1960C>T	XP_005260900.1:p.Arg654Cys
XM_006723639.1:c.1960C>T	XP_006723702.1:p.Arg654Cys
XM_006723640.1:c.1951C>T	XP_006723703.1:p.Arg651Cys
XM_011529366.1:c.1957C>T	XP_011527668.1:p.Arg653Cys
XM_011529367.1:c.1918C>T	XP_011527669.1:p.Arg640Cys
XM_011529368.1:c.1944+100C>T	XP_011527670.1:n.1944+100C>T
XM_011529369.1:c.*20C>T	XP_011527671.1:n.*20C>T
XM_011529370.1:c.*4+100C>T	XP_011527672.1:n.*4+100C>T
XM_011529373.1:c.958C>T	XP_011527675.1:p.Arg320Cys
XR_937151.1:n.2064C>T
XR_937152.1:n.2064C>T
XR_937153.1:n.1945C>T
XR_937154.1:n.1945C>T
XR_937155.1:n.1866C>T
XR_937157.1:n.1868C>T
NM_001282447.2:c.1921C>T	NP_001269376.1:p.Arg641Cys
NM_025220.4:c.1921C>T	NP_079496.1:p.Arg641Cys
NM_153202.3:c.1905+100C>T	NP_694882.1:n.1905+100C>T
XM_011529373.2:c.958C>T	XP_011527675.1:p.Arg320Cys
XR_001754405.1:n.2032C>T
XR_002958534.1:n.2141C>T
NM_001282447.3:c.1921C>T	NP_001269376.1:p.Arg641Cys
NM_025220.5:c.1921C>T MANE Select	NP_079496.1:p.Arg641Cys
NM_153202.4:c.1905+100C>T	NP_694882.1:n.1905+100C>T