Canonical Allele Identifier: CA408103849
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3669610-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669610G>C , CM000682.2:g.3669610G>C GRCh38
NC_000020.10:g.3650257G>C , CM000682.1:g.3650257G>C GRCh37
NC_000020.9:g.3598257G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.2268C>G MANE Select ENSP00000348912.3:p.His756Gln
ENST00000350009.6:c.2190C>G ENSP00000322550.5:p.His730Gln
ENST00000356518.6:c.2268C>G ENSP00000348912.2:p.His756Gln
ENST00000379861.8:c.2268C>G ENSP00000369190.4:p.His756Gln
ENST00000466620.5:n.1829C>G
ENST00000483362.1:n.1016C>G
ENST00000617732.1:c.*955C>G ENSP00000483343.1:n.*955C>G
ENST00000619289.4:c.1908C>G ENSP00000484600.1:p.His636Gln
NM_001282447.1:c.2268C>G NP_001269376.1:p.His756Gln
NM_025220.3:c.2268C>G NP_079496.1:p.His756Gln
NM_153202.2:c.2190C>G NP_694882.1:p.His730Gln
XM_005260843.1:c.2307C>G XP_005260900.1:p.His769Gln
XM_006723639.1:c.2307C>G XP_006723702.1:p.His769Gln
XM_006723640.1:c.2298C>G XP_006723703.1:p.His766Gln
XM_011529366.1:c.2304C>G XP_011527668.1:p.His768Gln
XM_011529367.1:c.2265C>G XP_011527669.1:p.His755Gln
XM_011529368.1:c.2229C>G XP_011527670.1:p.His743Gln
XM_011529373.1:c.1305C>G XP_011527675.1:p.His435Gln
XR_937151.1:n.2384-240C>G
XR_937152.1:n.2384-240C>G
XR_937153.1:n.2292C>G
XR_937154.1:n.2292C>G
XR_937155.1:n.2213C>G
XR_937157.1:n.2215C>G
NM_001282447.2:c.2268C>G NP_001269376.1:p.His756Gln
NM_025220.4:c.2268C>G NP_079496.1:p.His756Gln
NM_153202.3:c.2190C>G NP_694882.1:p.His730Gln
XM_011529373.2:c.1305C>G XP_011527675.1:p.His435Gln
XR_001754405.1:n.2379C>G
XR_002958534.1:n.2488C>G
NM_001282447.3:c.2268C>G NP_001269376.1:p.His756Gln
NM_025220.5:c.2268C>G MANE Select NP_079496.1:p.His756Gln
NM_153202.4:c.2190C>G NP_694882.1:p.His730Gln