Canonical Allele Identifier: CA311000237

Gene: ADAM33

Linked Data

• dbSNP Id: rs376706389
• gnomAD v2: 20-3652260-C-T
• gnomAD v4: 20-3671613-C-T
• MyVariant Identifiers: chr20:g.3652260C>T (hg19) ; chr20:g.3652260_3652275delinsTCAGGCCCAGGCCAAG (hg19) ; chr20:g.3671613C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671613C>T , CM000682.2:g.3671613C>T	GRCh38
NC_000020.10:g.3652260C>T , CM000682.1:g.3652260C>T	GRCh37
NC_000020.9:g.3600260C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1873G>A MANE Select	ENSP00000348912.3:p.Val625Ile
ENST00000350009.6:c.1873G>A	ENSP00000322550.5:p.Val625Ile
ENST00000356518.6:c.1873G>A	ENSP00000348912.2:p.Val625Ile
ENST00000379861.8:c.1873G>A	ENSP00000369190.4:p.Val625Ile
ENST00000466620.5:n.1512G>A
ENST00000617732.1:c.*632-156G>A	ENSP00000483343.1:n.*632-156G>A
ENST00000619289.4:c.1513G>A	ENSP00000484600.1:p.Val505Ile
NM_001282447.1:c.1873G>A	NP_001269376.1:p.Val625Ile
NM_025220.3:c.1873G>A	NP_079496.1:p.Val625Ile
NM_153202.2:c.1873G>A	NP_694882.1:p.Val625Ile
XM_005260843.1:c.1912G>A	XP_005260900.1:p.Val638Ile
XM_006723639.1:c.1912G>A	XP_006723702.1:p.Val638Ile
XM_006723640.1:c.1903G>A	XP_006723703.1:p.Val635Ile
XM_011529366.1:c.1909G>A	XP_011527668.1:p.Val637Ile
XM_011529367.1:c.1870G>A	XP_011527669.1:p.Val624Ile
XM_011529368.1:c.1912G>A	XP_011527670.1:p.Val638Ile
XM_011529369.1:c.1880G>A	XP_011527671.1:p.Gly627Asp
XM_011529370.1:c.1880G>A	XP_011527672.1:p.Gly627Asp
XM_011529373.1:c.910G>A	XP_011527675.1:p.Val304Ile
XR_937151.1:n.2016G>A
XR_937152.1:n.2016G>A
XR_937153.1:n.1897G>A
XR_937154.1:n.1897G>A
XR_937155.1:n.1818G>A
XR_937157.1:n.1820G>A
NM_001282447.2:c.1873G>A	NP_001269376.1:p.Val625Ile
NM_025220.4:c.1873G>A	NP_079496.1:p.Val625Ile
NM_153202.3:c.1873G>A	NP_694882.1:p.Val625Ile
XM_011529373.2:c.910G>A	XP_011527675.1:p.Val304Ile
XR_001754405.1:n.1984G>A
XR_002958534.1:n.2093G>A
NM_001282447.3:c.1873G>A	NP_001269376.1:p.Val625Ile
NM_025220.5:c.1873G>A MANE Select	NP_079496.1:p.Val625Ile
NM_153202.4:c.1873G>A	NP_694882.1:p.Val625Ile