Canonical Allele Identifier: CA310997590

Gene: ADAM33

Linked Data

• dbSNP Id: rs952321888
• gnomAD v2: 20-3649947-T-C
• gnomAD v3: 20-3669300-T-C
• gnomAD v4: 20-3669300-T-C
• MyVariant Identifiers: chr20:g.3649947T>C (hg19) ; chr20:g.3669300T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669300T>C , CM000682.2:g.3669300T>C	GRCh38
NC_000020.10:g.3649947T>C , CM000682.1:g.3649947T>C	GRCh37
NC_000020.9:g.3597947T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.2403A>G MANE Select	ENSP00000348912.3:p.Gln801=
ENST00000350009.6:c.2325A>G	ENSP00000322550.5:p.Gln775=
ENST00000356518.6:c.2403A>G	ENSP00000348912.2:p.Gln801=
ENST00000379861.8:c.2403A>G	ENSP00000369190.4:p.Gln801=
ENST00000466620.5:n.1964A>G
ENST00000483362.1:n.1326A>G
ENST00000617732.1:c.*1090A>G	ENSP00000483343.1:n.*1090A>G
ENST00000619289.4:c.2043A>G	ENSP00000484600.1:p.Gln681=
NM_001282447.1:c.2403A>G	NP_001269376.1:p.Gln801=
NM_025220.3:c.2403A>G	NP_079496.1:p.Gln801=
NM_153202.2:c.2325A>G	NP_694882.1:p.Gln775=
XM_005260843.1:c.2442A>G	XP_005260900.1:p.Gln814=
XM_006723639.1:c.2442A>G	XP_006723702.1:p.Gln814=
XM_006723640.1:c.2433A>G	XP_006723703.1:p.Gln811=
XM_011529366.1:c.2439A>G	XP_011527668.1:p.Gln813=
XM_011529367.1:c.2400A>G	XP_011527669.1:p.Gln800=
XM_011529368.1:c.2364A>G	XP_011527670.1:p.Gln788=
XM_011529373.1:c.1440A>G	XP_011527675.1:p.Gln480=
XR_937151.1:n.2454A>G
XR_937152.1:n.2454A>G
XR_937153.1:n.2427A>G
XR_937154.1:n.2427A>G
XR_937155.1:n.2348A>G
XR_937157.1:n.2350A>G
NM_001282447.2:c.2403A>G	NP_001269376.1:p.Gln801=
NM_025220.4:c.2403A>G	NP_079496.1:p.Gln801=
NM_153202.3:c.2325A>G	NP_694882.1:p.Gln775=
XM_011529373.2:c.1440A>G	XP_011527675.1:p.Gln480=
XR_001754405.1:n.2514A>G
XR_002958534.1:n.2623A>G
NM_001282447.3:c.2403A>G	NP_001269376.1:p.Gln801=
NM_025220.5:c.2403A>G MANE Select	NP_079496.1:p.Gln801=
NM_153202.4:c.2325A>G	NP_694882.1:p.Gln775=