Canonical Allele Identifier: CA408104752
Gene: ADAM33 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671460G>A , CM000682.2:g.3671460G>A GRCh38
NC_000020.10:g.3652107G>A , CM000682.1:g.3652107G>A GRCh37
NC_000020.9:g.3600107G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.1942C>T MANE Select ENSP00000348912.3:p.Gln648Ter
ENST00000350009.6:c.1906-115C>T ENSP00000322550.5:n.1906-115C>T
ENST00000356518.6:c.1942C>T ENSP00000348912.2:p.Gln648Ter
ENST00000379861.8:c.1942C>T ENSP00000369190.4:p.Gln648Ter
ENST00000466620.5:n.1545-115C>T
ENST00000617732.1:c.*632-3C>T ENSP00000483343.1:n.*632-3C>T
ENST00000619289.4:c.1582C>T ENSP00000484600.1:p.Gln528Ter
NM_001282447.1:c.1942C>T NP_001269376.1:p.Gln648Ter
NM_025220.3:c.1942C>T NP_079496.1:p.Gln648Ter
NM_153202.2:c.1906-115C>T NP_694882.1:n.1906-115C>T
XM_005260843.1:c.1981C>T XP_005260900.1:p.Gln661Ter
XM_006723639.1:c.1981C>T XP_006723702.1:p.Gln661Ter
XM_006723640.1:c.1972C>T XP_006723703.1:p.Gln658Ter
XM_011529366.1:c.1978C>T XP_011527668.1:p.Gln660Ter
XM_011529367.1:c.1939C>T XP_011527669.1:p.Gln647Ter
XM_011529368.1:c.1945-115C>T XP_011527670.1:n.1945-115C>T
XM_011529369.1:c.*41C>T XP_011527671.1:n.*41C>T
XM_011529370.1:c.*5-115C>T XP_011527672.1:n.*5-115C>T
XM_011529373.1:c.979C>T XP_011527675.1:p.Gln327Ter
XR_937151.1:n.2085C>T
XR_937152.1:n.2085C>T
XR_937153.1:n.1966C>T
XR_937154.1:n.1966C>T
XR_937155.1:n.1887C>T
XR_937157.1:n.1889C>T
NM_001282447.2:c.1942C>T NP_001269376.1:p.Gln648Ter
NM_025220.4:c.1942C>T NP_079496.1:p.Gln648Ter
NM_153202.3:c.1906-115C>T NP_694882.1:n.1906-115C>T
XM_011529373.2:c.979C>T XP_011527675.1:p.Gln327Ter
XR_001754405.1:n.2053C>T
XR_002958534.1:n.2162C>T
NM_001282447.3:c.1942C>T NP_001269376.1:p.Gln648Ter
NM_025220.5:c.1942C>T MANE Select NP_079496.1:p.Gln648Ter
NM_153202.4:c.1906-115C>T NP_694882.1:n.1906-115C>T