Canonical Allele Identifier: CA509419181
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3669309-A-G
MyVariant Identifiers: chr20:g.3649956A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669309A>G , CM000682.2:g.3669309A>G GRCh38
NC_000020.10:g.3649956A>G , CM000682.1:g.3649956A>G GRCh37
NC_000020.9:g.3597956A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.2394T>C MANE Select ENSP00000348912.3:p.Pro798=
ENST00000350009.6:c.2316T>C ENSP00000322550.5:p.Pro772=
ENST00000356518.6:c.2394T>C ENSP00000348912.2:p.Pro798=
ENST00000379861.8:c.2394T>C ENSP00000369190.4:p.Pro798=
ENST00000466620.5:n.1955T>C
ENST00000483362.1:n.1317T>C
ENST00000617732.1:c.*1081T>C ENSP00000483343.1:n.*1081T>C
ENST00000619289.4:c.2034T>C ENSP00000484600.1:p.Pro678=
NM_001282447.1:c.2394T>C NP_001269376.1:p.Pro798=
NM_025220.3:c.2394T>C NP_079496.1:p.Pro798=
NM_153202.2:c.2316T>C NP_694882.1:p.Pro772=
XM_005260843.1:c.2433T>C XP_005260900.1:p.Pro811=
XM_006723639.1:c.2433T>C XP_006723702.1:p.Pro811=
XM_006723640.1:c.2424T>C XP_006723703.1:p.Pro808=
XM_011529366.1:c.2430T>C XP_011527668.1:p.Pro810=
XM_011529367.1:c.2391T>C XP_011527669.1:p.Pro797=
XM_011529368.1:c.2355T>C XP_011527670.1:p.Pro785=
XM_011529373.1:c.1431T>C XP_011527675.1:p.Pro477=
XR_937151.1:n.2445T>C
XR_937152.1:n.2445T>C
XR_937153.1:n.2418T>C
XR_937154.1:n.2418T>C
XR_937155.1:n.2339T>C
XR_937157.1:n.2341T>C
NM_001282447.2:c.2394T>C NP_001269376.1:p.Pro798=
NM_025220.4:c.2394T>C NP_079496.1:p.Pro798=
NM_153202.3:c.2316T>C NP_694882.1:p.Pro772=
XM_011529373.2:c.1431T>C XP_011527675.1:p.Pro477=
XR_001754405.1:n.2505T>C
XR_002958534.1:n.2614T>C
NM_001282447.3:c.2394T>C NP_001269376.1:p.Pro798=
NM_025220.5:c.2394T>C MANE Select NP_079496.1:p.Pro798=
NM_153202.4:c.2316T>C NP_694882.1:p.Pro772=