Canonical Allele Identifier: CA408103413
Gene: ADAM33 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3668970A>C , CM000682.2:g.3668970A>C GRCh38
NC_000020.10:g.3649617A>C , CM000682.1:g.3649617A>C GRCh37
NC_000020.9:g.3597617A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.2435T>G MANE Select ENSP00000348912.3:p.Leu812Arg
ENST00000350009.6:c.2357T>G ENSP00000322550.5:p.Leu786Arg
ENST00000356518.6:c.2435T>G ENSP00000348912.2:p.Leu812Arg
ENST00000379861.8:c.2432T>G ENSP00000369190.4:p.Leu811Arg
ENST00000466620.5:n.1996T>G
ENST00000483362.1:n.1358T>G
ENST00000617732.1:c.*1119T>G ENSP00000483343.1:n.*1119T>G
ENST00000619289.4:c.2072T>G ENSP00000484600.1:p.Leu691Arg
NM_001282447.1:c.2432T>G NP_001269376.1:p.Leu811Arg
NM_025220.3:c.2435T>G NP_079496.1:p.Leu812Arg
NM_153202.2:c.2357T>G NP_694882.1:p.Leu786Arg
XM_005260843.1:c.2474T>G XP_005260900.1:p.Leu825Arg
XM_006723639.1:c.2471T>G XP_006723702.1:p.Leu824Arg
XM_006723640.1:c.2465T>G XP_006723703.1:p.Leu822Arg
XM_011529366.1:c.2471T>G XP_011527668.1:p.Leu824Arg
XM_011529367.1:c.2432T>G XP_011527669.1:p.Leu811Arg
XM_011529368.1:c.2396T>G XP_011527670.1:p.Leu799Arg
XM_011529373.1:c.1472T>G XP_011527675.1:p.Leu491Arg
XR_937153.1:n.2456T>G
XR_937154.1:n.2456T>G
XR_937155.1:n.2377T>G
XR_937157.1:n.2379T>G
NM_001282447.2:c.2432T>G NP_001269376.1:p.Leu811Arg
NM_025220.4:c.2435T>G NP_079496.1:p.Leu812Arg
NM_153202.3:c.2357T>G NP_694882.1:p.Leu786Arg
XM_011529373.2:c.1472T>G XP_011527675.1:p.Leu491Arg
XR_001754405.1:n.2543T>G
XR_002958534.1:n.2652T>G
NM_001282447.3:c.2432T>G NP_001269376.1:p.Leu811Arg
NM_025220.5:c.2435T>G MANE Select NP_079496.1:p.Leu812Arg
NM_153202.4:c.2357T>G NP_694882.1:p.Leu786Arg