Canonical Allele Identifier: CA408105127
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3671720-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671720T>C , CM000682.2:g.3671720T>C GRCh38
NC_000020.10:g.3652367T>C , CM000682.1:g.3652367T>C GRCh37
NC_000020.9:g.3600367T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.1766A>G MANE Select ENSP00000348912.3:p.His589Arg
ENST00000350009.6:c.1766A>G ENSP00000322550.5:p.His589Arg
ENST00000356518.6:c.1766A>G ENSP00000348912.2:p.His589Arg
ENST00000379861.8:c.1766A>G ENSP00000369190.4:p.His589Arg
ENST00000466620.5:n.1405A>G
ENST00000617732.1:c.*632-263A>G ENSP00000483343.1:n.*632-263A>G
ENST00000619289.4:c.1406A>G ENSP00000484600.1:p.His469Arg
NM_001282447.1:c.1766A>G NP_001269376.1:p.His589Arg
NM_025220.3:c.1766A>G NP_079496.1:p.His589Arg
NM_153202.2:c.1766A>G NP_694882.1:p.His589Arg
XM_005260843.1:c.1805A>G XP_005260900.1:p.His602Arg
XM_006723639.1:c.1805A>G XP_006723702.1:p.His602Arg
XM_006723640.1:c.1796A>G XP_006723703.1:p.His599Arg
XM_011529366.1:c.1802A>G XP_011527668.1:p.His601Arg
XM_011529367.1:c.1763A>G XP_011527669.1:p.His588Arg
XM_011529368.1:c.1805A>G XP_011527670.1:p.His602Arg
XM_011529369.1:c.1773A>G XP_011527671.1:p.Ala591=
XM_011529370.1:c.1773A>G XP_011527672.1:p.Ala591=
XM_011529373.1:c.803A>G XP_011527675.1:p.His268Arg
XR_937151.1:n.1909A>G
XR_937152.1:n.1909A>G
XR_937153.1:n.1790A>G
XR_937154.1:n.1790A>G
XR_937155.1:n.1711A>G
XR_937157.1:n.1713A>G
NM_001282447.2:c.1766A>G NP_001269376.1:p.His589Arg
NM_025220.4:c.1766A>G NP_079496.1:p.His589Arg
NM_153202.3:c.1766A>G NP_694882.1:p.His589Arg
XM_011529373.2:c.803A>G XP_011527675.1:p.His268Arg
XR_001754405.1:n.1877A>G
XR_002958534.1:n.1986A>G
NM_001282447.3:c.1766A>G NP_001269376.1:p.His589Arg
NM_025220.5:c.1766A>G MANE Select NP_079496.1:p.His589Arg
NM_153202.4:c.1766A>G NP_694882.1:p.His589Arg