Canonical Allele Identifier: CA509419235
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs1449837180
gnomAD v2: 20-3650215-G-T
gnomAD v4: 20-3669568-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669568G>T , CM000682.2:g.3669568G>T GRCh38
NC_000020.10:g.3650215G>T , CM000682.1:g.3650215G>T GRCh37
NC_000020.9:g.3598215G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.2310C>A MANE Select ENSP00000348912.3:p.Ala770=
ENST00000350009.6:c.2232C>A ENSP00000322550.5:p.Ala744=
ENST00000356518.6:c.2310C>A ENSP00000348912.2:p.Ala770=
ENST00000379861.8:c.2310C>A ENSP00000369190.4:p.Ala770=
ENST00000466620.5:n.1871C>A
ENST00000483362.1:n.1058C>A
ENST00000617732.1:c.*997C>A ENSP00000483343.1:n.*997C>A
ENST00000619289.4:c.1950C>A ENSP00000484600.1:p.Ala650=
NM_001282447.1:c.2310C>A NP_001269376.1:p.Ala770=
NM_025220.3:c.2310C>A NP_079496.1:p.Ala770=
NM_153202.2:c.2232C>A NP_694882.1:p.Ala744=
XM_005260843.1:c.2349C>A XP_005260900.1:p.Ala783=
XM_006723639.1:c.2349C>A XP_006723702.1:p.Ala783=
XM_006723640.1:c.2340C>A XP_006723703.1:p.Ala780=
XM_011529366.1:c.2346C>A XP_011527668.1:p.Ala782=
XM_011529367.1:c.2307C>A XP_011527669.1:p.Ala769=
XM_011529368.1:c.2271C>A XP_011527670.1:p.Ala757=
XM_011529373.1:c.1347C>A XP_011527675.1:p.Ala449=
XR_937151.1:n.2384-198C>A
XR_937152.1:n.2384-198C>A
XR_937153.1:n.2334C>A
XR_937154.1:n.2334C>A
XR_937155.1:n.2255C>A
XR_937157.1:n.2257C>A
NM_001282447.2:c.2310C>A NP_001269376.1:p.Ala770=
NM_025220.4:c.2310C>A NP_079496.1:p.Ala770=
NM_153202.3:c.2232C>A NP_694882.1:p.Ala744=
XM_011529373.2:c.1347C>A XP_011527675.1:p.Ala449=
XR_001754405.1:n.2421C>A
XR_002958534.1:n.2530C>A
NM_001282447.3:c.2310C>A NP_001269376.1:p.Ala770=
NM_025220.5:c.2310C>A MANE Select NP_079496.1:p.Ala770=
NM_153202.4:c.2232C>A NP_694882.1:p.Ala744=