Canonical Allele Identifier: CA509559965

Gene: ADAM33

Linked Data

• gnomAD v4: 20-3671104-C-A
• MyVariant Identifiers: chr20:g.3651751C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671104C>A , CM000682.2:g.3671104C>A	GRCh38
NC_000020.10:g.3651751C>A , CM000682.1:g.3651751C>A	GRCh37
NC_000020.9:g.3599751C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.2142G>T MANE Select	ENSP00000348912.3:p.Leu714=
ENST00000350009.6:c.2064G>T	ENSP00000322550.5:p.Leu688=
ENST00000356518.6:c.2142G>T	ENSP00000348912.2:p.Leu714=
ENST00000379861.8:c.2142G>T	ENSP00000369190.4:p.Leu714=
ENST00000466620.5:n.1703G>T
ENST00000617732.1:c.*829G>T	ENSP00000483343.1:n.*829G>T
ENST00000619289.4:c.1782G>T	ENSP00000484600.1:p.Leu594=
NM_001282447.1:c.2142G>T	NP_001269376.1:p.Leu714=
NM_025220.3:c.2142G>T	NP_079496.1:p.Leu714=
NM_153202.2:c.2064G>T	NP_694882.1:p.Leu688=
XM_005260843.1:c.2181G>T	XP_005260900.1:p.Leu727=
XM_006723639.1:c.2181G>T	XP_006723702.1:p.Leu727=
XM_006723640.1:c.2172G>T	XP_006723703.1:p.Leu724=
XM_011529366.1:c.2178G>T	XP_011527668.1:p.Leu726=
XM_011529367.1:c.2139G>T	XP_011527669.1:p.Leu713=
XM_011529368.1:c.2103G>T	XP_011527670.1:p.Leu701=
XM_011529373.1:c.1179G>T	XP_011527675.1:p.Leu393=
XR_937151.1:n.2285G>T
XR_937152.1:n.2285G>T
XR_937153.1:n.2166G>T
XR_937154.1:n.2166G>T
XR_937155.1:n.2087G>T
XR_937157.1:n.2089G>T
NM_001282447.2:c.2142G>T	NP_001269376.1:p.Leu714=
NM_025220.4:c.2142G>T	NP_079496.1:p.Leu714=
NM_153202.3:c.2064G>T	NP_694882.1:p.Leu688=
XM_011529373.2:c.1179G>T	XP_011527675.1:p.Leu393=
XR_001754405.1:n.2253G>T
XR_002958534.1:n.2362G>T
NM_001282447.3:c.2142G>T	NP_001269376.1:p.Leu714=
NM_025220.5:c.2142G>T MANE Select	NP_079496.1:p.Leu714=
NM_153202.4:c.2064G>T	NP_694882.1:p.Leu688=