Canonical Allele Identifier: CA408107043
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3673755-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3673755G>C , CM000682.2:g.3673755G>C GRCh38
NC_000020.10:g.3654402G>C , CM000682.1:g.3654402G>C GRCh37
NC_000020.9:g.3602402G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.895C>G MANE Select ENSP00000348912.3:p.Gln299Glu
ENST00000350009.6:c.895C>G ENSP00000322550.5:p.Gln299Glu
ENST00000356518.6:c.895C>G ENSP00000348912.2:p.Gln299Glu
ENST00000379861.8:c.895C>G ENSP00000369190.4:p.Gln299Glu
ENST00000617732.1:c.*631+557C>G ENSP00000483343.1:n.*631+557C>G
ENST00000619289.4:c.806+89C>G ENSP00000484600.1:n.806+89C>G
NM_001282447.1:c.895C>G NP_001269376.1:p.Gln299Glu
NM_025220.3:c.895C>G NP_079496.1:p.Gln299Glu
NM_153202.2:c.895C>G NP_694882.1:p.Gln299Glu
XM_005260843.1:c.934C>G XP_005260900.1:p.Gln312Glu
XM_006723639.1:c.934C>G XP_006723702.1:p.Gln312Glu
XM_006723640.1:c.934C>G XP_006723703.1:p.Gln312Glu
XM_006723644.2:c.934C>G XP_006723707.1:p.Gln312Glu
XM_011529366.1:c.931C>G XP_011527668.1:p.Gln311Glu
XM_011529367.1:c.892C>G XP_011527669.1:p.Gln298Glu
XM_011529368.1:c.934C>G XP_011527670.1:p.Gln312Glu
XM_011529369.1:c.934C>G XP_011527671.1:p.Gln312Glu
XM_011529370.1:c.934C>G XP_011527672.1:p.Gln312Glu
XM_011529371.1:c.934C>G XP_011527673.1:p.Gln312Glu
XM_011529372.1:c.934C>G XP_011527674.1:p.Gln312Glu
XM_011529373.1:c.-146C>G XP_011527675.1:n.-146C>G
XR_937151.1:n.1038C>G
XR_937152.1:n.1038C>G
XR_937153.1:n.1038C>G
XR_937154.1:n.1038C>G
XR_937155.1:n.959C>G
XR_937157.1:n.1038C>G
NM_001282447.2:c.895C>G NP_001269376.1:p.Gln299Glu
NM_025220.4:c.895C>G NP_079496.1:p.Gln299Glu
NM_153202.3:c.895C>G NP_694882.1:p.Gln299Glu
XM_011529371.2:c.934C>G XP_011527673.1:p.Gln312Glu
XM_011529373.2:c.-146C>G XP_011527675.1:n.-146C>G
XM_017028080.2:c.934C>G XP_016883569.1:p.Gln312Glu
XM_017028081.2:c.895C>G XP_016883570.1:p.Gln299Glu
XM_017028082.1:c.934C>G XP_016883571.1:p.Gln312Glu
XM_017028083.1:c.934C>G XP_016883572.1:p.Gln312Glu
XR_001754405.1:n.1038C>G
XR_002958534.1:n.1038C>G
NM_001282447.3:c.895C>G NP_001269376.1:p.Gln299Glu
NM_025220.5:c.895C>G MANE Select NP_079496.1:p.Gln299Glu
NM_153202.4:c.895C>G NP_694882.1:p.Gln299Glu