Canonical Allele Identifier: CA509419197
Gene: ADAM33 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.3649973G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669326G>A , CM000682.2:g.3669326G>A GRCh38
NC_000020.10:g.3649973G>A , CM000682.1:g.3649973G>A GRCh37
NC_000020.9:g.3597973G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.2377C>T MANE Select ENSP00000348912.3:p.Leu793=
ENST00000350009.6:c.2299C>T ENSP00000322550.5:p.Leu767=
ENST00000356518.6:c.2377C>T ENSP00000348912.2:p.Leu793=
ENST00000379861.8:c.2377C>T ENSP00000369190.4:p.Leu793=
ENST00000466620.5:n.1938C>T
ENST00000483362.1:n.1300C>T
ENST00000617732.1:c.*1064C>T ENSP00000483343.1:n.*1064C>T
ENST00000619289.4:c.2017C>T ENSP00000484600.1:p.Leu673=
NM_001282447.1:c.2377C>T NP_001269376.1:p.Leu793=
NM_025220.3:c.2377C>T NP_079496.1:p.Leu793=
NM_153202.2:c.2299C>T NP_694882.1:p.Leu767=
XM_005260843.1:c.2416C>T XP_005260900.1:p.Leu806=
XM_006723639.1:c.2416C>T XP_006723702.1:p.Leu806=
XM_006723640.1:c.2407C>T XP_006723703.1:p.Leu803=
XM_011529366.1:c.2413C>T XP_011527668.1:p.Leu805=
XM_011529367.1:c.2374C>T XP_011527669.1:p.Leu792=
XM_011529368.1:c.2338C>T XP_011527670.1:p.Leu780=
XM_011529373.1:c.1414C>T XP_011527675.1:p.Leu472=
XR_937151.1:n.2428C>T
XR_937152.1:n.2428C>T
XR_937153.1:n.2401C>T
XR_937154.1:n.2401C>T
XR_937155.1:n.2322C>T
XR_937157.1:n.2324C>T
NM_001282447.2:c.2377C>T NP_001269376.1:p.Leu793=
NM_025220.4:c.2377C>T NP_079496.1:p.Leu793=
NM_153202.3:c.2299C>T NP_694882.1:p.Leu767=
XM_011529373.2:c.1414C>T XP_011527675.1:p.Leu472=
XR_001754405.1:n.2488C>T
XR_002958534.1:n.2597C>T
NM_001282447.3:c.2377C>T NP_001269376.1:p.Leu793=
NM_025220.5:c.2377C>T MANE Select NP_079496.1:p.Leu793=
NM_153202.4:c.2299C>T NP_694882.1:p.Leu767=