Canonical Allele Identifier: CA408105328
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3671909-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671909G>C , CM000682.2:g.3671909G>C GRCh38
NC_000020.10:g.3652556G>C , CM000682.1:g.3652556G>C GRCh37
NC_000020.9:g.3600556G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.1674C>G MANE Select ENSP00000348912.3:p.Asp558Glu
ENST00000350009.6:c.1674C>G ENSP00000322550.5:p.Asp558Glu
ENST00000356518.6:c.1674C>G ENSP00000348912.2:p.Asp558Glu
ENST00000379861.8:c.1674C>G ENSP00000369190.4:p.Asp558Glu
ENST00000466620.5:n.1313C>G
ENST00000617732.1:c.*632-452C>G ENSP00000483343.1:n.*632-452C>G
ENST00000619289.4:c.1314C>G ENSP00000484600.1:p.Asp438Glu
NM_001282447.1:c.1674C>G NP_001269376.1:p.Asp558Glu
NM_025220.3:c.1674C>G NP_079496.1:p.Asp558Glu
NM_153202.2:c.1674C>G NP_694882.1:p.Asp558Glu
XM_005260843.1:c.1713C>G XP_005260900.1:p.Asp571Glu
XM_006723639.1:c.1713C>G XP_006723702.1:p.Asp571Glu
XM_006723640.1:c.1704C>G XP_006723703.1:p.Asp568Glu
XM_011529366.1:c.1710C>G XP_011527668.1:p.Asp570Glu
XM_011529367.1:c.1671C>G XP_011527669.1:p.Asp557Glu
XM_011529368.1:c.1713C>G XP_011527670.1:p.Asp571Glu
XM_011529369.1:c.1681C>G XP_011527671.1:p.Gln561Glu
XM_011529370.1:c.1681C>G XP_011527672.1:p.Gln561Glu
XM_011529373.1:c.711C>G XP_011527675.1:p.Asp237Glu
XR_937151.1:n.1817C>G
XR_937152.1:n.1817C>G
XR_937153.1:n.1698C>G
XR_937154.1:n.1698C>G
XR_937155.1:n.1619C>G
XR_937157.1:n.1621C>G
NM_001282447.2:c.1674C>G NP_001269376.1:p.Asp558Glu
NM_025220.4:c.1674C>G NP_079496.1:p.Asp558Glu
NM_153202.3:c.1674C>G NP_694882.1:p.Asp558Glu
XM_011529373.2:c.711C>G XP_011527675.1:p.Asp237Glu
XR_001754405.1:n.1785C>G
XR_002958534.1:n.1894C>G
NM_001282447.3:c.1674C>G NP_001269376.1:p.Asp558Glu
NM_025220.5:c.1674C>G MANE Select NP_079496.1:p.Asp558Glu
NM_153202.4:c.1674C>G NP_694882.1:p.Asp558Glu