Canonical Allele Identifier: CA408104833
Gene: ADAM33 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671495A>G , CM000682.2:g.3671495A>G GRCh38
NC_000020.10:g.3652142A>G , CM000682.1:g.3652142A>G GRCh37
NC_000020.9:g.3600142A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.1907T>C MANE Select ENSP00000348912.3:p.Val636Ala
ENST00000350009.6:c.1905+86T>C ENSP00000322550.5:n.1905+86T>C
ENST00000356518.6:c.1907T>C ENSP00000348912.2:p.Val636Ala
ENST00000379861.8:c.1907T>C ENSP00000369190.4:p.Val636Ala
ENST00000466620.5:n.1544+86T>C
ENST00000617732.1:c.*632-38T>C ENSP00000483343.1:n.*632-38T>C
ENST00000619289.4:c.1547T>C ENSP00000484600.1:p.Val516Ala
NM_001282447.1:c.1907T>C NP_001269376.1:p.Val636Ala
NM_025220.3:c.1907T>C NP_079496.1:p.Val636Ala
NM_153202.2:c.1905+86T>C NP_694882.1:n.1905+86T>C
XM_005260843.1:c.1946T>C XP_005260900.1:p.Val649Ala
XM_006723639.1:c.1946T>C XP_006723702.1:p.Val649Ala
XM_006723640.1:c.1937T>C XP_006723703.1:p.Val646Ala
XM_011529366.1:c.1943T>C XP_011527668.1:p.Val648Ala
XM_011529367.1:c.1904T>C XP_011527669.1:p.Val635Ala
XM_011529368.1:c.1944+86T>C XP_011527670.1:n.1944+86T>C
XM_011529369.1:c.*6T>C XP_011527671.1:n.*6T>C
XM_011529370.1:c.*4+86T>C XP_011527672.1:n.*4+86T>C
XM_011529373.1:c.944T>C XP_011527675.1:p.Val315Ala
XR_937151.1:n.2050T>C
XR_937152.1:n.2050T>C
XR_937153.1:n.1931T>C
XR_937154.1:n.1931T>C
XR_937155.1:n.1852T>C
XR_937157.1:n.1854T>C
NM_001282447.2:c.1907T>C NP_001269376.1:p.Val636Ala
NM_025220.4:c.1907T>C NP_079496.1:p.Val636Ala
NM_153202.3:c.1905+86T>C NP_694882.1:n.1905+86T>C
XM_011529373.2:c.944T>C XP_011527675.1:p.Val315Ala
XR_001754405.1:n.2018T>C
XR_002958534.1:n.2127T>C
NM_001282447.3:c.1907T>C NP_001269376.1:p.Val636Ala
NM_025220.5:c.1907T>C MANE Select NP_079496.1:p.Val636Ala
NM_153202.4:c.1905+86T>C NP_694882.1:n.1905+86T>C