Canonical Allele Identifier: CA408103784
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs768155460
gnomAD v2: 20-3650225-C-T
gnomAD v4: 20-3669578-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669578C>T , CM000682.2:g.3669578C>T GRCh38
NC_000020.10:g.3650225C>T , CM000682.1:g.3650225C>T GRCh37
NC_000020.9:g.3598225C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.2300G>A MANE Select ENSP00000348912.3:p.Gly767Asp
ENST00000350009.6:c.2222G>A ENSP00000322550.5:p.Gly741Asp
ENST00000356518.6:c.2300G>A ENSP00000348912.2:p.Gly767Asp
ENST00000379861.8:c.2300G>A ENSP00000369190.4:p.Gly767Asp
ENST00000466620.5:n.1861G>A
ENST00000483362.1:n.1048G>A
ENST00000617732.1:c.*987G>A ENSP00000483343.1:n.*987G>A
ENST00000619289.4:c.1940G>A ENSP00000484600.1:p.Gly647Asp
NM_001282447.1:c.2300G>A NP_001269376.1:p.Gly767Asp
NM_025220.3:c.2300G>A NP_079496.1:p.Gly767Asp
NM_153202.2:c.2222G>A NP_694882.1:p.Gly741Asp
XM_005260843.1:c.2339G>A XP_005260900.1:p.Gly780Asp
XM_006723639.1:c.2339G>A XP_006723702.1:p.Gly780Asp
XM_006723640.1:c.2330G>A XP_006723703.1:p.Gly777Asp
XM_011529366.1:c.2336G>A XP_011527668.1:p.Gly779Asp
XM_011529367.1:c.2297G>A XP_011527669.1:p.Gly766Asp
XM_011529368.1:c.2261G>A XP_011527670.1:p.Gly754Asp
XM_011529373.1:c.1337G>A XP_011527675.1:p.Gly446Asp
XR_937151.1:n.2384-208G>A
XR_937152.1:n.2384-208G>A
XR_937153.1:n.2324G>A
XR_937154.1:n.2324G>A
XR_937155.1:n.2245G>A
XR_937157.1:n.2247G>A
NM_001282447.2:c.2300G>A NP_001269376.1:p.Gly767Asp
NM_025220.4:c.2300G>A NP_079496.1:p.Gly767Asp
NM_153202.3:c.2222G>A NP_694882.1:p.Gly741Asp
XM_011529373.2:c.1337G>A XP_011527675.1:p.Gly446Asp
XR_001754405.1:n.2411G>A
XR_002958534.1:n.2520G>A
NM_001282447.3:c.2300G>A NP_001269376.1:p.Gly767Asp
NM_025220.5:c.2300G>A MANE Select NP_079496.1:p.Gly767Asp
NM_153202.4:c.2222G>A NP_694882.1:p.Gly741Asp