Canonical Allele Identifier: CA509559955

Gene: ADAM33

Linked Data

• dbSNP Id: rs2087530040
• gnomAD v3: 20-3671488-C-T
• gnomAD v4: 20-3671488-C-T
• MyVariant Identifiers: chr20:g.3652135C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671488C>T , CM000682.2:g.3671488C>T	GRCh38
NC_000020.10:g.3652135C>T , CM000682.1:g.3652135C>T	GRCh37
NC_000020.9:g.3600135C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1914G>A MANE Select	ENSP00000348912.3:p.Gln638=
ENST00000350009.6:c.1905+93G>A	ENSP00000322550.5:n.1905+93G>A
ENST00000356518.6:c.1914G>A	ENSP00000348912.2:p.Gln638=
ENST00000379861.8:c.1914G>A	ENSP00000369190.4:p.Gln638=
ENST00000466620.5:n.1544+93G>A
ENST00000617732.1:c.*632-31G>A	ENSP00000483343.1:n.*632-31G>A
ENST00000619289.4:c.1554G>A	ENSP00000484600.1:p.Gln518=
NM_001282447.1:c.1914G>A	NP_001269376.1:p.Gln638=
NM_025220.3:c.1914G>A	NP_079496.1:p.Gln638=
NM_153202.2:c.1905+93G>A	NP_694882.1:n.1905+93G>A
XM_005260843.1:c.1953G>A	XP_005260900.1:p.Gln651=
XM_006723639.1:c.1953G>A	XP_006723702.1:p.Gln651=
XM_006723640.1:c.1944G>A	XP_006723703.1:p.Gln648=
XM_011529366.1:c.1950G>A	XP_011527668.1:p.Gln650=
XM_011529367.1:c.1911G>A	XP_011527669.1:p.Gln637=
XM_011529368.1:c.1944+93G>A	XP_011527670.1:n.1944+93G>A
XM_011529369.1:c.*13G>A	XP_011527671.1:n.*13G>A
XM_011529370.1:c.*4+93G>A	XP_011527672.1:n.*4+93G>A
XM_011529373.1:c.951G>A	XP_011527675.1:p.Gln317=
XR_937151.1:n.2057G>A
XR_937152.1:n.2057G>A
XR_937153.1:n.1938G>A
XR_937154.1:n.1938G>A
XR_937155.1:n.1859G>A
XR_937157.1:n.1861G>A
NM_001282447.2:c.1914G>A	NP_001269376.1:p.Gln638=
NM_025220.4:c.1914G>A	NP_079496.1:p.Gln638=
NM_153202.3:c.1905+93G>A	NP_694882.1:n.1905+93G>A
XM_011529373.2:c.951G>A	XP_011527675.1:p.Gln317=
XR_001754405.1:n.2025G>A
XR_002958534.1:n.2134G>A
NM_001282447.3:c.1914G>A	NP_001269376.1:p.Gln638=
NM_025220.5:c.1914G>A MANE Select	NP_079496.1:p.Gln638=
NM_153202.4:c.1905+93G>A	NP_694882.1:n.1905+93G>A