Canonical Allele Identifier: CA9745219
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs612709
gnomAD v2: 20-3652207-G-A
gnomAD v3: 20-3671560-G-A
gnomAD v4: 20-3671560-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671560G>A , CM000682.2:g.3671560G>A GRCh38
NC_000020.10:g.3652207G>A , CM000682.1:g.3652207G>A GRCh37
NC_000020.9:g.3600207G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.1905+21C>T MANE Select ENSP00000348912.3:n.1905+21C>T
ENST00000350009.6:c.1905+21C>T ENSP00000322550.5:n.1905+21C>T
ENST00000356518.6:c.1905+21C>T ENSP00000348912.2:n.1905+21C>T
ENST00000379861.8:c.1905+21C>T ENSP00000369190.4:n.1905+21C>T
ENST00000466620.5:n.1544+21C>T
ENST00000617732.1:c.*632-103C>T ENSP00000483343.1:n.*632-103C>T
ENST00000619289.4:c.1545+21C>T ENSP00000484600.1:n.1545+21C>T
NM_001282447.1:c.1905+21C>T NP_001269376.1:n.1905+21C>T
NM_025220.3:c.1905+21C>T NP_079496.1:n.1905+21C>T
NM_153202.2:c.1905+21C>T NP_694882.1:n.1905+21C>T
XM_005260843.1:c.1944+21C>T XP_005260900.1:n.1944+21C>T
XM_006723639.1:c.1944+21C>T XP_006723702.1:n.1944+21C>T
XM_006723640.1:c.1935+21C>T XP_006723703.1:n.1935+21C>T
XM_011529366.1:c.1941+21C>T XP_011527668.1:n.1941+21C>T
XM_011529367.1:c.1902+21C>T XP_011527669.1:n.1902+21C>T
XM_011529368.1:c.1944+21C>T XP_011527670.1:n.1944+21C>T
XM_011529369.1:c.*4+21C>T XP_011527671.1:n.*4+21C>T
XM_011529370.1:c.*4+21C>T XP_011527672.1:n.*4+21C>T
XM_011529373.1:c.942+21C>T XP_011527675.1:n.942+21C>T
XR_937151.1:n.2048+21C>T
XR_937152.1:n.2048+21C>T
XR_937153.1:n.1929+21C>T
XR_937154.1:n.1929+21C>T
XR_937155.1:n.1850+21C>T
XR_937157.1:n.1852+21C>T
NM_001282447.2:c.1905+21C>T NP_001269376.1:n.1905+21C>T
NM_025220.4:c.1905+21C>T NP_079496.1:n.1905+21C>T
NM_153202.3:c.1905+21C>T NP_694882.1:n.1905+21C>T
XM_011529373.2:c.942+21C>T XP_011527675.1:n.942+21C>T
XR_001754405.1:n.2016+21C>T
XR_002958534.1:n.2125+21C>T
NM_001282447.3:c.1905+21C>T NP_001269376.1:n.1905+21C>T
NM_025220.5:c.1905+21C>T MANE Select NP_079496.1:n.1905+21C>T
NM_153202.4:c.1905+21C>T NP_694882.1:n.1905+21C>T