Canonical Allele Identifier: CA9745247
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs746010505
gnomAD v2: 20-3652345-G-A
gnomAD v3: 20-3671698-G-A
gnomAD v4: 20-3671698-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671698G>A , CM000682.2:g.3671698G>A GRCh38
NC_000020.10:g.3652345G>A , CM000682.1:g.3652345G>A GRCh37
NC_000020.9:g.3600345G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.1788C>T MANE Select ENSP00000348912.3:p.Thr596=
ENST00000350009.6:c.1788C>T ENSP00000322550.5:p.Thr596=
ENST00000356518.6:c.1788C>T ENSP00000348912.2:p.Thr596=
ENST00000379861.8:c.1788C>T ENSP00000369190.4:p.Thr596=
ENST00000466620.5:n.1427C>T
ENST00000617732.1:c.*632-241C>T ENSP00000483343.1:n.*632-241C>T
ENST00000619289.4:c.1428C>T ENSP00000484600.1:p.Thr476=
NM_001282447.1:c.1788C>T NP_001269376.1:p.Thr596=
NM_025220.3:c.1788C>T NP_079496.1:p.Thr596=
NM_153202.2:c.1788C>T NP_694882.1:p.Thr596=
XM_005260843.1:c.1827C>T XP_005260900.1:p.Thr609=
XM_006723639.1:c.1827C>T XP_006723702.1:p.Thr609=
XM_006723640.1:c.1818C>T XP_006723703.1:p.Thr606=
XM_011529366.1:c.1824C>T XP_011527668.1:p.Thr608=
XM_011529367.1:c.1785C>T XP_011527669.1:p.Thr595=
XM_011529368.1:c.1827C>T XP_011527670.1:p.Thr609=
XM_011529369.1:c.1795C>T XP_011527671.1:p.Arg599Cys
XM_011529370.1:c.1795C>T XP_011527672.1:p.Arg599Cys
XM_011529373.1:c.825C>T XP_011527675.1:p.Thr275=
XR_937151.1:n.1931C>T
XR_937152.1:n.1931C>T
XR_937153.1:n.1812C>T
XR_937154.1:n.1812C>T
XR_937155.1:n.1733C>T
XR_937157.1:n.1735C>T
NM_001282447.2:c.1788C>T NP_001269376.1:p.Thr596=
NM_025220.4:c.1788C>T NP_079496.1:p.Thr596=
NM_153202.3:c.1788C>T NP_694882.1:p.Thr596=
XM_011529373.2:c.825C>T XP_011527675.1:p.Thr275=
XR_001754405.1:n.1899C>T
XR_002958534.1:n.2008C>T
NM_001282447.3:c.1788C>T NP_001269376.1:p.Thr596=
NM_025220.5:c.1788C>T MANE Select NP_079496.1:p.Thr596=
NM_153202.4:c.1788C>T NP_694882.1:p.Thr596=