Canonical Allele Identifier: CA408105202
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs1259560536
gnomAD v3: 20-3671756-T-C
gnomAD v4: 20-3671756-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671756T>C , CM000682.2:g.3671756T>C GRCh38
NC_000020.10:g.3652403T>C , CM000682.1:g.3652403T>C GRCh37
NC_000020.9:g.3600403T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.1730A>G MANE Select ENSP00000348912.3:p.Gln577Arg
ENST00000350009.6:c.1730A>G ENSP00000322550.5:p.Gln577Arg
ENST00000356518.6:c.1730A>G ENSP00000348912.2:p.Gln577Arg
ENST00000379861.8:c.1730A>G ENSP00000369190.4:p.Gln577Arg
ENST00000466620.5:n.1369A>G
ENST00000617732.1:c.*632-299A>G ENSP00000483343.1:n.*632-299A>G
ENST00000619289.4:c.1370A>G ENSP00000484600.1:p.Gln457Arg
NM_001282447.1:c.1730A>G NP_001269376.1:p.Gln577Arg
NM_025220.3:c.1730A>G NP_079496.1:p.Gln577Arg
NM_153202.2:c.1730A>G NP_694882.1:p.Gln577Arg
XM_005260843.1:c.1769A>G XP_005260900.1:p.Gln590Arg
XM_006723639.1:c.1769A>G XP_006723702.1:p.Gln590Arg
XM_006723640.1:c.1760A>G XP_006723703.1:p.Gln587Arg
XM_011529366.1:c.1766A>G XP_011527668.1:p.Gln589Arg
XM_011529367.1:c.1727A>G XP_011527669.1:p.Gln576Arg
XM_011529368.1:c.1769A>G XP_011527670.1:p.Gln590Arg
XM_011529369.1:c.1737A>G XP_011527671.1:p.Ala579=
XM_011529370.1:c.1737A>G XP_011527672.1:p.Ala579=
XM_011529373.1:c.767A>G XP_011527675.1:p.Gln256Arg
XR_937151.1:n.1873A>G
XR_937152.1:n.1873A>G
XR_937153.1:n.1754A>G
XR_937154.1:n.1754A>G
XR_937155.1:n.1675A>G
XR_937157.1:n.1677A>G
NM_001282447.2:c.1730A>G NP_001269376.1:p.Gln577Arg
NM_025220.4:c.1730A>G NP_079496.1:p.Gln577Arg
NM_153202.3:c.1730A>G NP_694882.1:p.Gln577Arg
XM_011529373.2:c.767A>G XP_011527675.1:p.Gln256Arg
XR_001754405.1:n.1841A>G
XR_002958534.1:n.1950A>G
NM_001282447.3:c.1730A>G NP_001269376.1:p.Gln577Arg
NM_025220.5:c.1730A>G MANE Select NP_079496.1:p.Gln577Arg
NM_153202.4:c.1730A>G NP_694882.1:p.Gln577Arg