Canonical Allele Identifier: CA408104817
Gene: ADAM33 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.1914G>T MANE Select ENSP00000348912.3:p.Gln638His
ENST00000350009.6:c.1905+93G>T ENSP00000322550.5:n.1905+93G>T
ENST00000356518.6:c.1914G>T ENSP00000348912.2:p.Gln638His
ENST00000379861.8:c.1914G>T ENSP00000369190.4:p.Gln638His
ENST00000466620.5:n.1544+93G>T
ENST00000617732.1:c.*632-31G>T ENSP00000483343.1:n.*632-31G>T
ENST00000619289.4:c.1554G>T ENSP00000484600.1:p.Gln518His
NM_001282447.1:c.1914G>T NP_001269376.1:p.Gln638His
NM_025220.3:c.1914G>T NP_079496.1:p.Gln638His
NM_153202.2:c.1905+93G>T NP_694882.1:n.1905+93G>T
XM_005260843.1:c.1953G>T XP_005260900.1:p.Gln651His
XM_006723639.1:c.1953G>T XP_006723702.1:p.Gln651His
XM_006723640.1:c.1944G>T XP_006723703.1:p.Gln648His
XM_011529366.1:c.1950G>T XP_011527668.1:p.Gln650His
XM_011529367.1:c.1911G>T XP_011527669.1:p.Gln637His
XM_011529368.1:c.1944+93G>T XP_011527670.1:n.1944+93G>T
XM_011529369.1:c.*13G>T XP_011527671.1:n.*13G>T
XM_011529370.1:c.*4+93G>T XP_011527672.1:n.*4+93G>T
XM_011529373.1:c.951G>T XP_011527675.1:p.Gln317His
XR_937151.1:n.2057G>T
XR_937152.1:n.2057G>T
XR_937153.1:n.1938G>T
XR_937154.1:n.1938G>T
XR_937155.1:n.1859G>T
XR_937157.1:n.1861G>T
NM_001282447.2:c.1914G>T NP_001269376.1:p.Gln638His
NM_025220.4:c.1914G>T NP_079496.1:p.Gln638His
NM_153202.3:c.1905+93G>T NP_694882.1:n.1905+93G>T
XM_011529373.2:c.951G>T XP_011527675.1:p.Gln317His
XR_001754405.1:n.2025G>T
XR_002958534.1:n.2134G>T
NM_001282447.3:c.1914G>T NP_001269376.1:p.Gln638His
NM_025220.5:c.1914G>T MANE Select NP_079496.1:p.Gln638His
NM_153202.4:c.1905+93G>T NP_694882.1:n.1905+93G>T