Canonical Allele Identifier: CA408103550
Gene: ADAM33 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669328G>A , CM000682.2:g.3669328G>A GRCh38
NC_000020.10:g.3649975G>A , CM000682.1:g.3649975G>A GRCh37
NC_000020.9:g.3597975G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.2375C>T MANE Select ENSP00000348912.3:p.Pro792Leu
ENST00000350009.6:c.2297C>T ENSP00000322550.5:p.Pro766Leu
ENST00000356518.6:c.2375C>T ENSP00000348912.2:p.Pro792Leu
ENST00000379861.8:c.2375C>T ENSP00000369190.4:p.Pro792Leu
ENST00000466620.5:n.1936C>T
ENST00000483362.1:n.1298C>T
ENST00000617732.1:c.*1062C>T ENSP00000483343.1:n.*1062C>T
ENST00000619289.4:c.2015C>T ENSP00000484600.1:p.Pro672Leu
NM_001282447.1:c.2375C>T NP_001269376.1:p.Pro792Leu
NM_025220.3:c.2375C>T NP_079496.1:p.Pro792Leu
NM_153202.2:c.2297C>T NP_694882.1:p.Pro766Leu
XM_005260843.1:c.2414C>T XP_005260900.1:p.Pro805Leu
XM_006723639.1:c.2414C>T XP_006723702.1:p.Pro805Leu
XM_006723640.1:c.2405C>T XP_006723703.1:p.Pro802Leu
XM_011529366.1:c.2411C>T XP_011527668.1:p.Pro804Leu
XM_011529367.1:c.2372C>T XP_011527669.1:p.Pro791Leu
XM_011529368.1:c.2336C>T XP_011527670.1:p.Pro779Leu
XM_011529373.1:c.1412C>T XP_011527675.1:p.Pro471Leu
XR_937151.1:n.2426C>T
XR_937152.1:n.2426C>T
XR_937153.1:n.2399C>T
XR_937154.1:n.2399C>T
XR_937155.1:n.2320C>T
XR_937157.1:n.2322C>T
NM_001282447.2:c.2375C>T NP_001269376.1:p.Pro792Leu
NM_025220.4:c.2375C>T NP_079496.1:p.Pro792Leu
NM_153202.3:c.2297C>T NP_694882.1:p.Pro766Leu
XM_011529373.2:c.1412C>T XP_011527675.1:p.Pro471Leu
XR_001754405.1:n.2486C>T
XR_002958534.1:n.2595C>T
NM_001282447.3:c.2375C>T NP_001269376.1:p.Pro792Leu
NM_025220.5:c.2375C>T MANE Select NP_079496.1:p.Pro792Leu
NM_153202.4:c.2297C>T NP_694882.1:p.Pro766Leu