Canonical Allele Identifier: CA9745026
Gene: ADAM33 HGNC NCBI

Linked Data

dbSNP Id: rs146373315
gnomAD v2: 20-3649949-G-T
gnomAD v3: 20-3669302-G-T
gnomAD v4: 20-3669302-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669302G>T , CM000682.2:g.3669302G>T GRCh38
NC_000020.10:g.3649949G>T , CM000682.1:g.3649949G>T GRCh37
NC_000020.9:g.3597949G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.2401C>A MANE Select ENSP00000348912.3:p.Gln801Lys
ENST00000350009.6:c.2323C>A ENSP00000322550.5:p.Gln775Lys
ENST00000356518.6:c.2401C>A ENSP00000348912.2:p.Gln801Lys
ENST00000379861.8:c.2401C>A ENSP00000369190.4:p.Gln801Lys
ENST00000466620.5:n.1962C>A
ENST00000483362.1:n.1324C>A
ENST00000617732.1:c.*1088C>A ENSP00000483343.1:n.*1088C>A
ENST00000619289.4:c.2041C>A ENSP00000484600.1:p.Gln681Lys
NM_001282447.1:c.2401C>A NP_001269376.1:p.Gln801Lys
NM_025220.3:c.2401C>A NP_079496.1:p.Gln801Lys
NM_153202.2:c.2323C>A NP_694882.1:p.Gln775Lys
XM_005260843.1:c.2440C>A XP_005260900.1:p.Gln814Lys
XM_006723639.1:c.2440C>A XP_006723702.1:p.Gln814Lys
XM_006723640.1:c.2431C>A XP_006723703.1:p.Gln811Lys
XM_011529366.1:c.2437C>A XP_011527668.1:p.Gln813Lys
XM_011529367.1:c.2398C>A XP_011527669.1:p.Gln800Lys
XM_011529368.1:c.2362C>A XP_011527670.1:p.Gln788Lys
XM_011529373.1:c.1438C>A XP_011527675.1:p.Gln480Lys
XR_937151.1:n.2452C>A
XR_937152.1:n.2452C>A
XR_937153.1:n.2425C>A
XR_937154.1:n.2425C>A
XR_937155.1:n.2346C>A
XR_937157.1:n.2348C>A
NM_001282447.2:c.2401C>A NP_001269376.1:p.Gln801Lys
NM_025220.4:c.2401C>A NP_079496.1:p.Gln801Lys
NM_153202.3:c.2323C>A NP_694882.1:p.Gln775Lys
XM_011529373.2:c.1438C>A XP_011527675.1:p.Gln480Lys
XR_001754405.1:n.2512C>A
XR_002958534.1:n.2621C>A
NM_001282447.3:c.2401C>A NP_001269376.1:p.Gln801Lys
NM_025220.5:c.2401C>A MANE Select NP_079496.1:p.Gln801Lys
NM_153202.4:c.2323C>A NP_694882.1:p.Gln775Lys