Canonical Allele Identifier: CA2651730675
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3673739-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3673739A>G , CM000682.2:g.3673739A>G GRCh38
NC_000020.10:g.3654386A>G , CM000682.1:g.3654386A>G GRCh37
NC_000020.9:g.3602386A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.905+6T>C MANE Select ENSP00000348912.3:n.905+6T>C
ENST00000350009.6:c.905+6T>C ENSP00000322550.5:n.905+6T>C
ENST00000356518.6:c.905+6T>C ENSP00000348912.2:n.905+6T>C
ENST00000379861.8:c.905+6T>C ENSP00000369190.4:n.905+6T>C
ENST00000466620.5:n.9T>C
ENST00000617732.1:c.*631+573T>C ENSP00000483343.1:n.*631+573T>C
ENST00000619289.4:c.806+105T>C ENSP00000484600.1:n.806+105T>C
NM_001282447.1:c.905+6T>C NP_001269376.1:n.905+6T>C
NM_025220.3:c.905+6T>C NP_079496.1:n.905+6T>C
NM_153202.2:c.905+6T>C NP_694882.1:n.905+6T>C
XM_005260843.1:c.944+6T>C XP_005260900.1:n.944+6T>C
XM_006723639.1:c.944+6T>C XP_006723702.1:n.944+6T>C
XM_006723640.1:c.944+6T>C XP_006723703.1:n.944+6T>C
XM_006723644.2:c.944+6T>C XP_006723707.1:n.944+6T>C
XM_011529366.1:c.941+6T>C XP_011527668.1:n.941+6T>C
XM_011529367.1:c.902+6T>C XP_011527669.1:n.902+6T>C
XM_011529368.1:c.944+6T>C XP_011527670.1:n.944+6T>C
XM_011529369.1:c.944+6T>C XP_011527671.1:n.944+6T>C
XM_011529370.1:c.944+6T>C XP_011527672.1:n.944+6T>C
XM_011529371.1:c.944+6T>C XP_011527673.1:n.944+6T>C
XM_011529372.1:c.944+6T>C XP_011527674.1:n.944+6T>C
XM_011529373.1:c.-130T>C XP_011527675.1:n.-130T>C
XR_937151.1:n.1048+6T>C
XR_937152.1:n.1048+6T>C
XR_937153.1:n.1048+6T>C
XR_937154.1:n.1054T>C
XR_937155.1:n.975T>C
XR_937157.1:n.1048+6T>C
NM_001282447.2:c.905+6T>C NP_001269376.1:n.905+6T>C
NM_025220.4:c.905+6T>C NP_079496.1:n.905+6T>C
NM_153202.3:c.905+6T>C NP_694882.1:n.905+6T>C
XM_011529371.2:c.944+6T>C XP_011527673.1:n.944+6T>C
XM_011529373.2:c.-130T>C XP_011527675.1:n.-130T>C
XM_017028080.2:c.950T>C XP_016883569.1:p.Val317Ala
XM_017028081.2:c.911T>C XP_016883570.1:p.Val304Ala
XM_017028082.1:c.944+6T>C XP_016883571.1:n.944+6T>C
XM_017028083.1:c.944+6T>C XP_016883572.1:n.944+6T>C
XR_001754405.1:n.1048+6T>C
XR_002958534.1:n.1048+6T>C
NM_001282447.3:c.905+6T>C NP_001269376.1:n.905+6T>C
NM_025220.5:c.905+6T>C MANE Select NP_079496.1:n.905+6T>C
NM_153202.4:c.905+6T>C NP_694882.1:n.905+6T>C