Canonical Allele Identifier: CA408104859
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3671585-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671585C>A , CM000682.2:g.3671585C>A GRCh38
NC_000020.10:g.3652232C>A , CM000682.1:g.3652232C>A GRCh37
NC_000020.9:g.3600232C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.1901G>T MANE Select ENSP00000348912.3:p.Arg634Ile
ENST00000350009.6:c.1901G>T ENSP00000322550.5:p.Arg634Ile
ENST00000356518.6:c.1901G>T ENSP00000348912.2:p.Arg634Ile
ENST00000379861.8:c.1901G>T ENSP00000369190.4:p.Arg634Ile
ENST00000466620.5:n.1540G>T
ENST00000617732.1:c.*632-128G>T ENSP00000483343.1:n.*632-128G>T
ENST00000619289.4:c.1541G>T ENSP00000484600.1:p.Arg514Ile
NM_001282447.1:c.1901G>T NP_001269376.1:p.Arg634Ile
NM_025220.3:c.1901G>T NP_079496.1:p.Arg634Ile
NM_153202.2:c.1901G>T NP_694882.1:p.Arg634Ile
XM_005260843.1:c.1940G>T XP_005260900.1:p.Arg647Ile
XM_006723639.1:c.1940G>T XP_006723702.1:p.Arg647Ile
XM_006723640.1:c.1931G>T XP_006723703.1:p.Arg644Ile
XM_011529366.1:c.1937G>T XP_011527668.1:p.Arg646Ile
XM_011529367.1:c.1898G>T XP_011527669.1:p.Arg633Ile
XM_011529368.1:c.1940G>T XP_011527670.1:p.Arg647Ile
XM_011529369.1:c.1908G>T XP_011527671.1:p.Ter636Tyr
XM_011529370.1:c.1908G>T XP_011527672.1:p.Ter636Tyr
XM_011529373.1:c.938G>T XP_011527675.1:p.Arg313Ile
XR_937151.1:n.2044G>T
XR_937152.1:n.2044G>T
XR_937153.1:n.1925G>T
XR_937154.1:n.1925G>T
XR_937155.1:n.1846G>T
XR_937157.1:n.1848G>T
NM_001282447.2:c.1901G>T NP_001269376.1:p.Arg634Ile
NM_025220.4:c.1901G>T NP_079496.1:p.Arg634Ile
NM_153202.3:c.1901G>T NP_694882.1:p.Arg634Ile
XM_011529373.2:c.938G>T XP_011527675.1:p.Arg313Ile
XR_001754405.1:n.2012G>T
XR_002958534.1:n.2121G>T
NM_001282447.3:c.1901G>T NP_001269376.1:p.Arg634Ile
NM_025220.5:c.1901G>T MANE Select NP_079496.1:p.Arg634Ile
NM_153202.4:c.1901G>T NP_694882.1:p.Arg634Ile