Canonical Allele Identifier: CA408104764
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3671465-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671465G>C , CM000682.2:g.3671465G>C GRCh38
NC_000020.10:g.3652112G>C , CM000682.1:g.3652112G>C GRCh37
NC_000020.9:g.3600112G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.1937C>G MANE Select ENSP00000348912.3:p.Ala646Gly
ENST00000350009.6:c.1905+116C>G ENSP00000322550.5:n.1905+116C>G
ENST00000356518.6:c.1937C>G ENSP00000348912.2:p.Ala646Gly
ENST00000379861.8:c.1937C>G ENSP00000369190.4:p.Ala646Gly
ENST00000466620.5:n.1544+116C>G
ENST00000617732.1:c.*632-8C>G ENSP00000483343.1:n.*632-8C>G
ENST00000619289.4:c.1577C>G ENSP00000484600.1:p.Ala526Gly
NM_001282447.1:c.1937C>G NP_001269376.1:p.Ala646Gly
NM_025220.3:c.1937C>G NP_079496.1:p.Ala646Gly
NM_153202.2:c.1905+116C>G NP_694882.1:n.1905+116C>G
XM_005260843.1:c.1976C>G XP_005260900.1:p.Ala659Gly
XM_006723639.1:c.1976C>G XP_006723702.1:p.Ala659Gly
XM_006723640.1:c.1967C>G XP_006723703.1:p.Ala656Gly
XM_011529366.1:c.1973C>G XP_011527668.1:p.Ala658Gly
XM_011529367.1:c.1934C>G XP_011527669.1:p.Ala645Gly
XM_011529368.1:c.1944+116C>G XP_011527670.1:n.1944+116C>G
XM_011529369.1:c.*36C>G XP_011527671.1:n.*36C>G
XM_011529370.1:c.*4+116C>G XP_011527672.1:n.*4+116C>G
XM_011529373.1:c.974C>G XP_011527675.1:p.Ala325Gly
XR_937151.1:n.2080C>G
XR_937152.1:n.2080C>G
XR_937153.1:n.1961C>G
XR_937154.1:n.1961C>G
XR_937155.1:n.1882C>G
XR_937157.1:n.1884C>G
NM_001282447.2:c.1937C>G NP_001269376.1:p.Ala646Gly
NM_025220.4:c.1937C>G NP_079496.1:p.Ala646Gly
NM_153202.3:c.1905+116C>G NP_694882.1:n.1905+116C>G
XM_011529373.2:c.974C>G XP_011527675.1:p.Ala325Gly
XR_001754405.1:n.2048C>G
XR_002958534.1:n.2157C>G
NM_001282447.3:c.1937C>G NP_001269376.1:p.Ala646Gly
NM_025220.5:c.1937C>G MANE Select NP_079496.1:p.Ala646Gly
NM_153202.4:c.1905+116C>G NP_694882.1:n.1905+116C>G