Canonical Allele Identifier: CA408105368
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3671926-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671926C>T , CM000682.2:g.3671926C>T GRCh38
NC_000020.10:g.3652573C>T , CM000682.1:g.3652573C>T GRCh37
NC_000020.9:g.3600573C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.1657G>A MANE Select ENSP00000348912.3:p.Gly553Arg
ENST00000350009.6:c.1657G>A ENSP00000322550.5:p.Gly553Arg
ENST00000356518.6:c.1657G>A ENSP00000348912.2:p.Gly553Arg
ENST00000379861.8:c.1657G>A ENSP00000369190.4:p.Gly553Arg
ENST00000466620.5:n.1296G>A
ENST00000617732.1:c.*632-469G>A ENSP00000483343.1:n.*632-469G>A
ENST00000619289.4:c.1297G>A ENSP00000484600.1:p.Gly433Arg
NM_001282447.1:c.1657G>A NP_001269376.1:p.Gly553Arg
NM_025220.3:c.1657G>A NP_079496.1:p.Gly553Arg
NM_153202.2:c.1657G>A NP_694882.1:p.Gly553Arg
XM_005260843.1:c.1696G>A XP_005260900.1:p.Gly566Arg
XM_006723639.1:c.1696G>A XP_006723702.1:p.Gly566Arg
XM_006723640.1:c.1687G>A XP_006723703.1:p.Gly563Arg
XM_011529366.1:c.1693G>A XP_011527668.1:p.Gly565Arg
XM_011529367.1:c.1654G>A XP_011527669.1:p.Gly552Arg
XM_011529368.1:c.1696G>A XP_011527670.1:p.Gly566Arg
XM_011529369.1:c.1664G>A XP_011527671.1:p.Trp555Ter
XM_011529370.1:c.1664G>A XP_011527672.1:p.Trp555Ter
XM_011529373.1:c.694G>A XP_011527675.1:p.Gly232Arg
XR_937151.1:n.1800G>A
XR_937152.1:n.1800G>A
XR_937153.1:n.1681G>A
XR_937154.1:n.1681G>A
XR_937155.1:n.1602G>A
XR_937157.1:n.1604G>A
NM_001282447.2:c.1657G>A NP_001269376.1:p.Gly553Arg
NM_025220.4:c.1657G>A NP_079496.1:p.Gly553Arg
NM_153202.3:c.1657G>A NP_694882.1:p.Gly553Arg
XM_011529373.2:c.694G>A XP_011527675.1:p.Gly232Arg
XR_001754405.1:n.1768G>A
XR_002958534.1:n.1877G>A
NM_001282447.3:c.1657G>A NP_001269376.1:p.Gly553Arg
NM_025220.5:c.1657G>A MANE Select NP_079496.1:p.Gly553Arg
NM_153202.4:c.1657G>A NP_694882.1:p.Gly553Arg