Canonical Allele Identifier: CA408105143

Gene: ADAM33

Linked Data

• gnomAD v4: 20-3671729-A-T
• MyVariant Identifiers: chr20:g.3652376A>T (hg19) ; chr20:g.3671729A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671729A>T , CM000682.2:g.3671729A>T	GRCh38
NC_000020.10:g.3652376A>T , CM000682.1:g.3652376A>T	GRCh37
NC_000020.9:g.3600376A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1757T>A MANE Select	ENSP00000348912.3:p.Leu586His
ENST00000350009.6:c.1757T>A	ENSP00000322550.5:p.Leu586His
ENST00000356518.6:c.1757T>A	ENSP00000348912.2:p.Leu586His
ENST00000379861.8:c.1757T>A	ENSP00000369190.4:p.Leu586His
ENST00000466620.5:n.1396T>A
ENST00000617732.1:c.*632-272T>A	ENSP00000483343.1:n.*632-272T>A
ENST00000619289.4:c.1397T>A	ENSP00000484600.1:p.Leu466His
NM_001282447.1:c.1757T>A	NP_001269376.1:p.Leu586His
NM_025220.3:c.1757T>A	NP_079496.1:p.Leu586His
NM_153202.2:c.1757T>A	NP_694882.1:p.Leu586His
XM_005260843.1:c.1796T>A	XP_005260900.1:p.Leu599His
XM_006723639.1:c.1796T>A	XP_006723702.1:p.Leu599His
XM_006723640.1:c.1787T>A	XP_006723703.1:p.Leu596His
XM_011529366.1:c.1793T>A	XP_011527668.1:p.Leu598His
XM_011529367.1:c.1754T>A	XP_011527669.1:p.Leu585His
XM_011529368.1:c.1796T>A	XP_011527670.1:p.Leu599His
XM_011529369.1:c.1764T>A	XP_011527671.1:p.Ala588=
XM_011529370.1:c.1764T>A	XP_011527672.1:p.Ala588=
XM_011529373.1:c.794T>A	XP_011527675.1:p.Leu265His
XR_937151.1:n.1900T>A
XR_937152.1:n.1900T>A
XR_937153.1:n.1781T>A
XR_937154.1:n.1781T>A
XR_937155.1:n.1702T>A
XR_937157.1:n.1704T>A
NM_001282447.2:c.1757T>A	NP_001269376.1:p.Leu586His
NM_025220.4:c.1757T>A	NP_079496.1:p.Leu586His
NM_153202.3:c.1757T>A	NP_694882.1:p.Leu586His
XM_011529373.2:c.794T>A	XP_011527675.1:p.Leu265His
XR_001754405.1:n.1868T>A
XR_002958534.1:n.1977T>A
NM_001282447.3:c.1757T>A	NP_001269376.1:p.Leu586His
NM_025220.5:c.1757T>A MANE Select	NP_079496.1:p.Leu586His
NM_153202.4:c.1757T>A	NP_694882.1:p.Leu586His