Canonical Allele Identifier: CA408103744
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3669559-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669559C>A , CM000682.2:g.3669559C>A GRCh38
NC_000020.10:g.3650206C>A , CM000682.1:g.3650206C>A GRCh37
NC_000020.9:g.3598206C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.2319G>T MANE Select ENSP00000348912.3:p.Gln773His
ENST00000350009.6:c.2241G>T ENSP00000322550.5:p.Gln747His
ENST00000356518.6:c.2319G>T ENSP00000348912.2:p.Gln773His
ENST00000379861.8:c.2319G>T ENSP00000369190.4:p.Gln773His
ENST00000466620.5:n.1880G>T
ENST00000483362.1:n.1067G>T
ENST00000617732.1:c.*1006G>T ENSP00000483343.1:n.*1006G>T
ENST00000619289.4:c.1959G>T ENSP00000484600.1:p.Gln653His
NM_001282447.1:c.2319G>T NP_001269376.1:p.Gln773His
NM_025220.3:c.2319G>T NP_079496.1:p.Gln773His
NM_153202.2:c.2241G>T NP_694882.1:p.Gln747His
XM_005260843.1:c.2358G>T XP_005260900.1:p.Gln786His
XM_006723639.1:c.2358G>T XP_006723702.1:p.Gln786His
XM_006723640.1:c.2349G>T XP_006723703.1:p.Gln783His
XM_011529366.1:c.2355G>T XP_011527668.1:p.Gln785His
XM_011529367.1:c.2316G>T XP_011527669.1:p.Gln772His
XM_011529368.1:c.2280G>T XP_011527670.1:p.Gln760His
XM_011529373.1:c.1356G>T XP_011527675.1:p.Gln452His
XR_937151.1:n.2384-189G>T
XR_937152.1:n.2384-189G>T
XR_937153.1:n.2343G>T
XR_937154.1:n.2343G>T
XR_937155.1:n.2264G>T
XR_937157.1:n.2266G>T
NM_001282447.2:c.2319G>T NP_001269376.1:p.Gln773His
NM_025220.4:c.2319G>T NP_079496.1:p.Gln773His
NM_153202.3:c.2241G>T NP_694882.1:p.Gln747His
XM_011529373.2:c.1356G>T XP_011527675.1:p.Gln452His
XR_001754405.1:n.2430G>T
XR_002958534.1:n.2539G>T
NM_001282447.3:c.2319G>T NP_001269376.1:p.Gln773His
NM_025220.5:c.2319G>T MANE Select NP_079496.1:p.Gln773His
NM_153202.4:c.2241G>T NP_694882.1:p.Gln747His