Canonical Allele Identifier: CA509559764
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs1323393175
gnomAD v2: 20-3652553-G-A
gnomAD v3: 20-3671906-G-A
gnomAD v4: 20-3671906-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671906G>A , CM000682.2:g.3671906G>A GRCh38
NC_000020.10:g.3652553G>A , CM000682.1:g.3652553G>A GRCh37
NC_000020.9:g.3600553G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.1677C>T MANE Select ENSP00000348912.3:p.Ser559=
ENST00000350009.6:c.1677C>T ENSP00000322550.5:p.Ser559=
ENST00000356518.6:c.1677C>T ENSP00000348912.2:p.Ser559=
ENST00000379861.8:c.1677C>T ENSP00000369190.4:p.Ser559=
ENST00000466620.5:n.1316C>T
ENST00000617732.1:c.*632-449C>T ENSP00000483343.1:n.*632-449C>T
ENST00000619289.4:c.1317C>T ENSP00000484600.1:p.Ser439=
NM_001282447.1:c.1677C>T NP_001269376.1:p.Ser559=
NM_025220.3:c.1677C>T NP_079496.1:p.Ser559=
NM_153202.2:c.1677C>T NP_694882.1:p.Ser559=
XM_005260843.1:c.1716C>T XP_005260900.1:p.Ser572=
XM_006723639.1:c.1716C>T XP_006723702.1:p.Ser572=
XM_006723640.1:c.1707C>T XP_006723703.1:p.Ser569=
XM_011529366.1:c.1713C>T XP_011527668.1:p.Ser571=
XM_011529367.1:c.1674C>T XP_011527669.1:p.Ser558=
XM_011529368.1:c.1716C>T XP_011527670.1:p.Ser572=
XM_011529369.1:c.1684C>T XP_011527671.1:p.Arg562Ter
XM_011529370.1:c.1684C>T XP_011527672.1:p.Arg562Ter
XM_011529373.1:c.714C>T XP_011527675.1:p.Ser238=
XR_937151.1:n.1820C>T
XR_937152.1:n.1820C>T
XR_937153.1:n.1701C>T
XR_937154.1:n.1701C>T
XR_937155.1:n.1622C>T
XR_937157.1:n.1624C>T
NM_001282447.2:c.1677C>T NP_001269376.1:p.Ser559=
NM_025220.4:c.1677C>T NP_079496.1:p.Ser559=
NM_153202.3:c.1677C>T NP_694882.1:p.Ser559=
XM_011529373.2:c.714C>T XP_011527675.1:p.Ser238=
XR_001754405.1:n.1788C>T
XR_002958534.1:n.1897C>T
NM_001282447.3:c.1677C>T NP_001269376.1:p.Ser559=
NM_025220.5:c.1677C>T MANE Select NP_079496.1:p.Ser559=
NM_153202.4:c.1677C>T NP_694882.1:p.Ser559=