Canonical Allele Identifier: CA9745119
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs3918396
gnomAD v2: 20-3651765-C-T
gnomAD v3: 20-3671118-C-T
gnomAD v4: 20-3671118-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671118C>T , CM000682.2:g.3671118C>T GRCh38
NC_000020.10:g.3651765C>T , CM000682.1:g.3651765C>T GRCh37
NC_000020.9:g.3599765C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.2128G>A MANE Select ENSP00000348912.3:p.Val710Ile
ENST00000350009.6:c.2050G>A ENSP00000322550.5:p.Val684Ile
ENST00000356518.6:c.2128G>A ENSP00000348912.2:p.Val710Ile
ENST00000379861.8:c.2128G>A ENSP00000369190.4:p.Val710Ile
ENST00000466620.5:n.1689G>A
ENST00000617732.1:c.*815G>A ENSP00000483343.1:n.*815G>A
ENST00000619289.4:c.1768G>A ENSP00000484600.1:p.Val590Ile
NM_001282447.1:c.2128G>A NP_001269376.1:p.Val710Ile
NM_025220.3:c.2128G>A NP_079496.1:p.Val710Ile
NM_153202.2:c.2050G>A NP_694882.1:p.Val684Ile
XM_005260843.1:c.2167G>A XP_005260900.1:p.Val723Ile
XM_006723639.1:c.2167G>A XP_006723702.1:p.Val723Ile
XM_006723640.1:c.2158G>A XP_006723703.1:p.Val720Ile
XM_011529366.1:c.2164G>A XP_011527668.1:p.Val722Ile
XM_011529367.1:c.2125G>A XP_011527669.1:p.Val709Ile
XM_011529368.1:c.2089G>A XP_011527670.1:p.Val697Ile
XM_011529373.1:c.1165G>A XP_011527675.1:p.Val389Ile
XR_937151.1:n.2271G>A
XR_937152.1:n.2271G>A
XR_937153.1:n.2152G>A
XR_937154.1:n.2152G>A
XR_937155.1:n.2073G>A
XR_937157.1:n.2075G>A
NM_001282447.2:c.2128G>A NP_001269376.1:p.Val710Ile
NM_025220.4:c.2128G>A NP_079496.1:p.Val710Ile
NM_153202.3:c.2050G>A NP_694882.1:p.Val684Ile
XM_011529373.2:c.1165G>A XP_011527675.1:p.Val389Ile
XR_001754405.1:n.2239G>A
XR_002958534.1:n.2348G>A
NM_001282447.3:c.2128G>A NP_001269376.1:p.Val710Ile
NM_025220.5:c.2128G>A MANE Select NP_079496.1:p.Val710Ile
NM_153202.4:c.2050G>A NP_694882.1:p.Val684Ile