Canonical Allele Identifier: CA408105387

Gene: ADAM33

Linked Data

• dbSNP Id: rs2087563144
• gnomAD v3: 20-3671934-T-G
• gnomAD v4: 20-3671934-T-G
• MyVariant Identifiers: chr20:g.3652581T>G (hg19) ; chr20:g.3671934T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671934T>G , CM000682.2:g.3671934T>G	GRCh38
NC_000020.10:g.3652581T>G , CM000682.1:g.3652581T>G	GRCh37
NC_000020.9:g.3600581T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1649A>C MANE Select	ENSP00000348912.3:p.Asp550Ala
ENST00000350009.6:c.1649A>C	ENSP00000322550.5:p.Asp550Ala
ENST00000356518.6:c.1649A>C	ENSP00000348912.2:p.Asp550Ala
ENST00000379861.8:c.1649A>C	ENSP00000369190.4:p.Asp550Ala
ENST00000466620.5:n.1288A>C
ENST00000617732.1:c.*632-477A>C	ENSP00000483343.1:n.*632-477A>C
ENST00000619289.4:c.1289A>C	ENSP00000484600.1:p.Asp430Ala
NM_001282447.1:c.1649A>C	NP_001269376.1:p.Asp550Ala
NM_025220.3:c.1649A>C	NP_079496.1:p.Asp550Ala
NM_153202.2:c.1649A>C	NP_694882.1:p.Asp550Ala
XM_005260843.1:c.1688A>C	XP_005260900.1:p.Asp563Ala
XM_006723639.1:c.1688A>C	XP_006723702.1:p.Asp563Ala
XM_006723640.1:c.1679A>C	XP_006723703.1:p.Asp560Ala
XM_011529366.1:c.1685A>C	XP_011527668.1:p.Asp562Ala
XM_011529367.1:c.1646A>C	XP_011527669.1:p.Asp549Ala
XM_011529368.1:c.1688A>C	XP_011527670.1:p.Asp563Ala
XM_011529369.1:c.1656A>C	XP_011527671.1:p.Arg552Ser
XM_011529370.1:c.1656A>C	XP_011527672.1:p.Arg552Ser
XM_011529373.1:c.686A>C	XP_011527675.1:p.Asp229Ala
XR_937151.1:n.1792A>C
XR_937152.1:n.1792A>C
XR_937153.1:n.1673A>C
XR_937154.1:n.1673A>C
XR_937155.1:n.1594A>C
XR_937157.1:n.1596A>C
NM_001282447.2:c.1649A>C	NP_001269376.1:p.Asp550Ala
NM_025220.4:c.1649A>C	NP_079496.1:p.Asp550Ala
NM_153202.3:c.1649A>C	NP_694882.1:p.Asp550Ala
XM_011529373.2:c.686A>C	XP_011527675.1:p.Asp229Ala
XR_001754405.1:n.1760A>C
XR_002958534.1:n.1869A>C
NM_001282447.3:c.1649A>C	NP_001269376.1:p.Asp550Ala
NM_025220.5:c.1649A>C MANE Select	NP_079496.1:p.Asp550Ala
NM_153202.4:c.1649A>C	NP_694882.1:p.Asp550Ala