Canonical Allele Identifier: CA408105332
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3671910-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671910T>G , CM000682.2:g.3671910T>G GRCh38
NC_000020.10:g.3652557T>G , CM000682.1:g.3652557T>G GRCh37
NC_000020.9:g.3600557T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.1673A>C MANE Select ENSP00000348912.3:p.Asp558Ala
ENST00000350009.6:c.1673A>C ENSP00000322550.5:p.Asp558Ala
ENST00000356518.6:c.1673A>C ENSP00000348912.2:p.Asp558Ala
ENST00000379861.8:c.1673A>C ENSP00000369190.4:p.Asp558Ala
ENST00000466620.5:n.1312A>C
ENST00000617732.1:c.*632-453A>C ENSP00000483343.1:n.*632-453A>C
ENST00000619289.4:c.1313A>C ENSP00000484600.1:p.Asp438Ala
NM_001282447.1:c.1673A>C NP_001269376.1:p.Asp558Ala
NM_025220.3:c.1673A>C NP_079496.1:p.Asp558Ala
NM_153202.2:c.1673A>C NP_694882.1:p.Asp558Ala
XM_005260843.1:c.1712A>C XP_005260900.1:p.Asp571Ala
XM_006723639.1:c.1712A>C XP_006723702.1:p.Asp571Ala
XM_006723640.1:c.1703A>C XP_006723703.1:p.Asp568Ala
XM_011529366.1:c.1709A>C XP_011527668.1:p.Asp570Ala
XM_011529367.1:c.1670A>C XP_011527669.1:p.Asp557Ala
XM_011529368.1:c.1712A>C XP_011527670.1:p.Asp571Ala
XM_011529369.1:c.1680A>C XP_011527671.1:p.Gly560=
XM_011529370.1:c.1680A>C XP_011527672.1:p.Gly560=
XM_011529373.1:c.710A>C XP_011527675.1:p.Asp237Ala
XR_937151.1:n.1816A>C
XR_937152.1:n.1816A>C
XR_937153.1:n.1697A>C
XR_937154.1:n.1697A>C
XR_937155.1:n.1618A>C
XR_937157.1:n.1620A>C
NM_001282447.2:c.1673A>C NP_001269376.1:p.Asp558Ala
NM_025220.4:c.1673A>C NP_079496.1:p.Asp558Ala
NM_153202.3:c.1673A>C NP_694882.1:p.Asp558Ala
XM_011529373.2:c.710A>C XP_011527675.1:p.Asp237Ala
XR_001754405.1:n.1784A>C
XR_002958534.1:n.1893A>C
NM_001282447.3:c.1673A>C NP_001269376.1:p.Asp558Ala
NM_025220.5:c.1673A>C MANE Select NP_079496.1:p.Asp558Ala
NM_153202.4:c.1673A>C NP_694882.1:p.Asp558Ala