Canonical Allele Identifier: CA408104959
Gene: ADAM33 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671636A>T , CM000682.2:g.3671636A>T GRCh38
NC_000020.10:g.3652283A>T , CM000682.1:g.3652283A>T GRCh37
NC_000020.9:g.3600283A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.1850T>A MANE Select ENSP00000348912.3:p.Leu617Gln
ENST00000350009.6:c.1850T>A ENSP00000322550.5:p.Leu617Gln
ENST00000356518.6:c.1850T>A ENSP00000348912.2:p.Leu617Gln
ENST00000379861.8:c.1850T>A ENSP00000369190.4:p.Leu617Gln
ENST00000466620.5:n.1489T>A
ENST00000617732.1:c.*632-179T>A ENSP00000483343.1:n.*632-179T>A
ENST00000619289.4:c.1490T>A ENSP00000484600.1:p.Leu497Gln
NM_001282447.1:c.1850T>A NP_001269376.1:p.Leu617Gln
NM_025220.3:c.1850T>A NP_079496.1:p.Leu617Gln
NM_153202.2:c.1850T>A NP_694882.1:p.Leu617Gln
XM_005260843.1:c.1889T>A XP_005260900.1:p.Leu630Gln
XM_006723639.1:c.1889T>A XP_006723702.1:p.Leu630Gln
XM_006723640.1:c.1880T>A XP_006723703.1:p.Leu627Gln
XM_011529366.1:c.1886T>A XP_011527668.1:p.Leu629Gln
XM_011529367.1:c.1847T>A XP_011527669.1:p.Leu616Gln
XM_011529368.1:c.1889T>A XP_011527670.1:p.Leu630Gln
XM_011529369.1:c.1857T>A XP_011527671.1:p.Ala619=
XM_011529370.1:c.1857T>A XP_011527672.1:p.Ala619=
XM_011529373.1:c.887T>A XP_011527675.1:p.Leu296Gln
XR_937151.1:n.1993T>A
XR_937152.1:n.1993T>A
XR_937153.1:n.1874T>A
XR_937154.1:n.1874T>A
XR_937155.1:n.1795T>A
XR_937157.1:n.1797T>A
NM_001282447.2:c.1850T>A NP_001269376.1:p.Leu617Gln
NM_025220.4:c.1850T>A NP_079496.1:p.Leu617Gln
NM_153202.3:c.1850T>A NP_694882.1:p.Leu617Gln
XM_011529373.2:c.887T>A XP_011527675.1:p.Leu296Gln
XR_001754405.1:n.1961T>A
XR_002958534.1:n.2070T>A
NM_001282447.3:c.1850T>A NP_001269376.1:p.Leu617Gln
NM_025220.5:c.1850T>A MANE Select NP_079496.1:p.Leu617Gln
NM_153202.4:c.1850T>A NP_694882.1:p.Leu617Gln