Canonical Allele Identifier: CA408105344
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3671916-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671916C>G , CM000682.2:g.3671916C>G GRCh38
NC_000020.10:g.3652563C>G , CM000682.1:g.3652563C>G GRCh37
NC_000020.9:g.3600563C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.1667G>C MANE Select ENSP00000348912.3:p.Gly556Ala
ENST00000350009.6:c.1667G>C ENSP00000322550.5:p.Gly556Ala
ENST00000356518.6:c.1667G>C ENSP00000348912.2:p.Gly556Ala
ENST00000379861.8:c.1667G>C ENSP00000369190.4:p.Gly556Ala
ENST00000466620.5:n.1306G>C
ENST00000617732.1:c.*632-459G>C ENSP00000483343.1:n.*632-459G>C
ENST00000619289.4:c.1307G>C ENSP00000484600.1:p.Gly436Ala
NM_001282447.1:c.1667G>C NP_001269376.1:p.Gly556Ala
NM_025220.3:c.1667G>C NP_079496.1:p.Gly556Ala
NM_153202.2:c.1667G>C NP_694882.1:p.Gly556Ala
XM_005260843.1:c.1706G>C XP_005260900.1:p.Gly569Ala
XM_006723639.1:c.1706G>C XP_006723702.1:p.Gly569Ala
XM_006723640.1:c.1697G>C XP_006723703.1:p.Gly566Ala
XM_011529366.1:c.1703G>C XP_011527668.1:p.Gly568Ala
XM_011529367.1:c.1664G>C XP_011527669.1:p.Gly555Ala
XM_011529368.1:c.1706G>C XP_011527670.1:p.Gly569Ala
XM_011529369.1:c.1674G>C XP_011527671.1:p.Arg558=
XM_011529370.1:c.1674G>C XP_011527672.1:p.Arg558=
XM_011529373.1:c.704G>C XP_011527675.1:p.Gly235Ala
XR_937151.1:n.1810G>C
XR_937152.1:n.1810G>C
XR_937153.1:n.1691G>C
XR_937154.1:n.1691G>C
XR_937155.1:n.1612G>C
XR_937157.1:n.1614G>C
NM_001282447.2:c.1667G>C NP_001269376.1:p.Gly556Ala
NM_025220.4:c.1667G>C NP_079496.1:p.Gly556Ala
NM_153202.3:c.1667G>C NP_694882.1:p.Gly556Ala
XM_011529373.2:c.704G>C XP_011527675.1:p.Gly235Ala
XR_001754405.1:n.1778G>C
XR_002958534.1:n.1887G>C
NM_001282447.3:c.1667G>C NP_001269376.1:p.Gly556Ala
NM_025220.5:c.1667G>C MANE Select NP_079496.1:p.Gly556Ala
NM_153202.4:c.1667G>C NP_694882.1:p.Gly556Ala