Canonical Allele Identifier: CA408103793
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3669582-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669582A>C , CM000682.2:g.3669582A>C GRCh38
NC_000020.10:g.3650229A>C , CM000682.1:g.3650229A>C GRCh37
NC_000020.9:g.3598229A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.2296T>G MANE Select ENSP00000348912.3:p.Leu766Val
ENST00000350009.6:c.2218T>G ENSP00000322550.5:p.Leu740Val
ENST00000356518.6:c.2296T>G ENSP00000348912.2:p.Leu766Val
ENST00000379861.8:c.2296T>G ENSP00000369190.4:p.Leu766Val
ENST00000466620.5:n.1857T>G
ENST00000483362.1:n.1044T>G
ENST00000617732.1:c.*983T>G ENSP00000483343.1:n.*983T>G
ENST00000619289.4:c.1936T>G ENSP00000484600.1:p.Leu646Val
NM_001282447.1:c.2296T>G NP_001269376.1:p.Leu766Val
NM_025220.3:c.2296T>G NP_079496.1:p.Leu766Val
NM_153202.2:c.2218T>G NP_694882.1:p.Leu740Val
XM_005260843.1:c.2335T>G XP_005260900.1:p.Leu779Val
XM_006723639.1:c.2335T>G XP_006723702.1:p.Leu779Val
XM_006723640.1:c.2326T>G XP_006723703.1:p.Leu776Val
XM_011529366.1:c.2332T>G XP_011527668.1:p.Leu778Val
XM_011529367.1:c.2293T>G XP_011527669.1:p.Leu765Val
XM_011529368.1:c.2257T>G XP_011527670.1:p.Leu753Val
XM_011529373.1:c.1333T>G XP_011527675.1:p.Leu445Val
XR_937151.1:n.2384-212T>G
XR_937152.1:n.2384-212T>G
XR_937153.1:n.2320T>G
XR_937154.1:n.2320T>G
XR_937155.1:n.2241T>G
XR_937157.1:n.2243T>G
NM_001282447.2:c.2296T>G NP_001269376.1:p.Leu766Val
NM_025220.4:c.2296T>G NP_079496.1:p.Leu766Val
NM_153202.3:c.2218T>G NP_694882.1:p.Leu740Val
XM_011529373.2:c.1333T>G XP_011527675.1:p.Leu445Val
XR_001754405.1:n.2407T>G
XR_002958534.1:n.2516T>G
NM_001282447.3:c.2296T>G NP_001269376.1:p.Leu766Val
NM_025220.5:c.2296T>G MANE Select NP_079496.1:p.Leu766Val
NM_153202.4:c.2218T>G NP_694882.1:p.Leu740Val