Canonical Allele Identifier: CA408104801
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3671481-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671481G>T , CM000682.2:g.3671481G>T GRCh38
NC_000020.10:g.3652128G>T , CM000682.1:g.3652128G>T GRCh37
NC_000020.9:g.3600128G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.1921C>A MANE Select ENSP00000348912.3:p.Arg641Ser
ENST00000350009.6:c.1905+100C>A ENSP00000322550.5:n.1905+100C>A
ENST00000356518.6:c.1921C>A ENSP00000348912.2:p.Arg641Ser
ENST00000379861.8:c.1921C>A ENSP00000369190.4:p.Arg641Ser
ENST00000466620.5:n.1544+100C>A
ENST00000617732.1:c.*632-24C>A ENSP00000483343.1:n.*632-24C>A
ENST00000619289.4:c.1561C>A ENSP00000484600.1:p.Arg521Ser
NM_001282447.1:c.1921C>A NP_001269376.1:p.Arg641Ser
NM_025220.3:c.1921C>A NP_079496.1:p.Arg641Ser
NM_153202.2:c.1905+100C>A NP_694882.1:n.1905+100C>A
XM_005260843.1:c.1960C>A XP_005260900.1:p.Arg654Ser
XM_006723639.1:c.1960C>A XP_006723702.1:p.Arg654Ser
XM_006723640.1:c.1951C>A XP_006723703.1:p.Arg651Ser
XM_011529366.1:c.1957C>A XP_011527668.1:p.Arg653Ser
XM_011529367.1:c.1918C>A XP_011527669.1:p.Arg640Ser
XM_011529368.1:c.1944+100C>A XP_011527670.1:n.1944+100C>A
XM_011529369.1:c.*20C>A XP_011527671.1:n.*20C>A
XM_011529370.1:c.*4+100C>A XP_011527672.1:n.*4+100C>A
XM_011529373.1:c.958C>A XP_011527675.1:p.Arg320Ser
XR_937151.1:n.2064C>A
XR_937152.1:n.2064C>A
XR_937153.1:n.1945C>A
XR_937154.1:n.1945C>A
XR_937155.1:n.1866C>A
XR_937157.1:n.1868C>A
NM_001282447.2:c.1921C>A NP_001269376.1:p.Arg641Ser
NM_025220.4:c.1921C>A NP_079496.1:p.Arg641Ser
NM_153202.3:c.1905+100C>A NP_694882.1:n.1905+100C>A
XM_011529373.2:c.958C>A XP_011527675.1:p.Arg320Ser
XR_001754405.1:n.2032C>A
XR_002958534.1:n.2141C>A
NM_001282447.3:c.1921C>A NP_001269376.1:p.Arg641Ser
NM_025220.5:c.1921C>A MANE Select NP_079496.1:p.Arg641Ser
NM_153202.4:c.1905+100C>A NP_694882.1:n.1905+100C>A