Canonical Allele Identifier: CA408104768
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3671466-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671466C>T , CM000682.2:g.3671466C>T GRCh38
NC_000020.10:g.3652113C>T , CM000682.1:g.3652113C>T GRCh37
NC_000020.9:g.3600113C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.1936G>A MANE Select ENSP00000348912.3:p.Ala646Thr
ENST00000350009.6:c.1905+115G>A ENSP00000322550.5:n.1905+115G>A
ENST00000356518.6:c.1936G>A ENSP00000348912.2:p.Ala646Thr
ENST00000379861.8:c.1936G>A ENSP00000369190.4:p.Ala646Thr
ENST00000466620.5:n.1544+115G>A
ENST00000617732.1:c.*632-9G>A ENSP00000483343.1:n.*632-9G>A
ENST00000619289.4:c.1576G>A ENSP00000484600.1:p.Ala526Thr
NM_001282447.1:c.1936G>A NP_001269376.1:p.Ala646Thr
NM_025220.3:c.1936G>A NP_079496.1:p.Ala646Thr
NM_153202.2:c.1905+115G>A NP_694882.1:n.1905+115G>A
XM_005260843.1:c.1975G>A XP_005260900.1:p.Ala659Thr
XM_006723639.1:c.1975G>A XP_006723702.1:p.Ala659Thr
XM_006723640.1:c.1966G>A XP_006723703.1:p.Ala656Thr
XM_011529366.1:c.1972G>A XP_011527668.1:p.Ala658Thr
XM_011529367.1:c.1933G>A XP_011527669.1:p.Ala645Thr
XM_011529368.1:c.1944+115G>A XP_011527670.1:n.1944+115G>A
XM_011529369.1:c.*35G>A XP_011527671.1:n.*35G>A
XM_011529370.1:c.*4+115G>A XP_011527672.1:n.*4+115G>A
XM_011529373.1:c.973G>A XP_011527675.1:p.Ala325Thr
XR_937151.1:n.2079G>A
XR_937152.1:n.2079G>A
XR_937153.1:n.1960G>A
XR_937154.1:n.1960G>A
XR_937155.1:n.1881G>A
XR_937157.1:n.1883G>A
NM_001282447.2:c.1936G>A NP_001269376.1:p.Ala646Thr
NM_025220.4:c.1936G>A NP_079496.1:p.Ala646Thr
NM_153202.3:c.1905+115G>A NP_694882.1:n.1905+115G>A
XM_011529373.2:c.973G>A XP_011527675.1:p.Ala325Thr
XR_001754405.1:n.2047G>A
XR_002958534.1:n.2156G>A
NM_001282447.3:c.1936G>A NP_001269376.1:p.Ala646Thr
NM_025220.5:c.1936G>A MANE Select NP_079496.1:p.Ala646Thr
NM_153202.4:c.1905+115G>A NP_694882.1:n.1905+115G>A