Canonical Allele Identifier: CA509419267
Gene: ADAM33 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.3650265T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669618T>G , CM000682.2:g.3669618T>G GRCh38
NC_000020.10:g.3650265T>G , CM000682.1:g.3650265T>G GRCh37
NC_000020.9:g.3598265T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.2260A>C MANE Select ENSP00000348912.3:p.Arg754=
ENST00000350009.6:c.2182A>C ENSP00000322550.5:p.Arg728=
ENST00000356518.6:c.2260A>C ENSP00000348912.2:p.Arg754=
ENST00000379861.8:c.2260A>C ENSP00000369190.4:p.Arg754=
ENST00000466620.5:n.1821A>C
ENST00000483362.1:n.1008A>C
ENST00000617732.1:c.*947A>C ENSP00000483343.1:n.*947A>C
ENST00000619289.4:c.1900A>C ENSP00000484600.1:p.Arg634=
NM_001282447.1:c.2260A>C NP_001269376.1:p.Arg754=
NM_025220.3:c.2260A>C NP_079496.1:p.Arg754=
NM_153202.2:c.2182A>C NP_694882.1:p.Arg728=
XM_005260843.1:c.2299A>C XP_005260900.1:p.Arg767=
XM_006723639.1:c.2299A>C XP_006723702.1:p.Arg767=
XM_006723640.1:c.2290A>C XP_006723703.1:p.Arg764=
XM_011529366.1:c.2296A>C XP_011527668.1:p.Arg766=
XM_011529367.1:c.2257A>C XP_011527669.1:p.Arg753=
XM_011529368.1:c.2221A>C XP_011527670.1:p.Arg741=
XM_011529373.1:c.1297A>C XP_011527675.1:p.Arg433=
XR_937151.1:n.2384-248A>C
XR_937152.1:n.2384-248A>C
XR_937153.1:n.2284A>C
XR_937154.1:n.2284A>C
XR_937155.1:n.2205A>C
XR_937157.1:n.2207A>C
NM_001282447.2:c.2260A>C NP_001269376.1:p.Arg754=
NM_025220.4:c.2260A>C NP_079496.1:p.Arg754=
NM_153202.3:c.2182A>C NP_694882.1:p.Arg728=
XM_011529373.2:c.1297A>C XP_011527675.1:p.Arg433=
XR_001754405.1:n.2371A>C
XR_002958534.1:n.2480A>C
NM_001282447.3:c.2260A>C NP_001269376.1:p.Arg754=
NM_025220.5:c.2260A>C MANE Select NP_079496.1:p.Arg754=
NM_153202.4:c.2182A>C NP_694882.1:p.Arg728=