Canonical Allele Identifier: CA9745285

Gene: ADAM33

Linked Data

• dbSNP Id: rs562826418
• ExAC: 20:3652586 C / T
• gnomAD v2: 20-3652586-C-T
• gnomAD v3: 20-3671939-C-T
• gnomAD v4: 20-3671939-C-T
• MyVariant Identifiers: chr20:g.3652586C>T (hg19) ; chr20:g.3671939C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671939C>T , CM000682.2:g.3671939C>T	GRCh38
NC_000020.10:g.3652586C>T , CM000682.1:g.3652586C>T	GRCh37
NC_000020.9:g.3600586C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1644G>A MANE Select	ENSP00000348912.3:p.Ala548=
ENST00000350009.6:c.1644G>A	ENSP00000322550.5:p.Ala548=
ENST00000356518.6:c.1644G>A	ENSP00000348912.2:p.Ala548=
ENST00000379861.8:c.1644G>A	ENSP00000369190.4:p.Ala548=
ENST00000466620.5:n.1283G>A
ENST00000617732.1:c.*632-482G>A	ENSP00000483343.1:n.*632-482G>A
ENST00000619289.4:c.1284G>A	ENSP00000484600.1:p.Ala428=
NM_001282447.1:c.1644G>A	NP_001269376.1:p.Ala548=
NM_025220.3:c.1644G>A	NP_079496.1:p.Ala548=
NM_153202.2:c.1644G>A	NP_694882.1:p.Ala548=
XM_005260843.1:c.1683G>A	XP_005260900.1:p.Ala561=
XM_006723639.1:c.1683G>A	XP_006723702.1:p.Ala561=
XM_006723640.1:c.1674G>A	XP_006723703.1:p.Ala558=
XM_011529366.1:c.1680G>A	XP_011527668.1:p.Ala560=
XM_011529367.1:c.1641G>A	XP_011527669.1:p.Ala547=
XM_011529368.1:c.1683G>A	XP_011527670.1:p.Ala561=
XM_011529369.1:c.1651G>A	XP_011527671.1:p.Gly551Arg
XM_011529370.1:c.1651G>A	XP_011527672.1:p.Gly551Arg
XM_011529373.1:c.681G>A	XP_011527675.1:p.Ala227=
XR_937151.1:n.1787G>A
XR_937152.1:n.1787G>A
XR_937153.1:n.1668G>A
XR_937154.1:n.1668G>A
XR_937155.1:n.1589G>A
XR_937157.1:n.1591G>A
NM_001282447.2:c.1644G>A	NP_001269376.1:p.Ala548=
NM_025220.4:c.1644G>A	NP_079496.1:p.Ala548=
NM_153202.3:c.1644G>A	NP_694882.1:p.Ala548=
XM_011529373.2:c.681G>A	XP_011527675.1:p.Ala227=
XR_001754405.1:n.1755G>A
XR_002958534.1:n.1864G>A
NM_001282447.3:c.1644G>A	NP_001269376.1:p.Ala548=
NM_025220.5:c.1644G>A MANE Select	NP_079496.1:p.Ala548=
NM_153202.4:c.1644G>A	NP_694882.1:p.Ala548=