Canonical Allele Identifier: CA509419160

Gene: ADAM33

Linked Data

• dbSNP Id: rs1342431436
• gnomAD v2: 20-3649616-G-A
• gnomAD v4: 20-3668969-G-A
• MyVariant Identifiers: chr20:g.3649616G>A (hg19) ; chr20:g.3668969G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3668969G>A , CM000682.2:g.3668969G>A	GRCh38
NC_000020.10:g.3649616G>A , CM000682.1:g.3649616G>A	GRCh37
NC_000020.9:g.3597616G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2436C>T MANE Select	ENSP00000348912.3:p.Leu812=
ENST00000350009.6:c.2358C>T	ENSP00000322550.5:p.Leu786=
ENST00000356518.6:c.2436C>T	ENSP00000348912.2:p.Leu812=
ENST00000379861.8:c.2433C>T	ENSP00000369190.4:p.Leu811=
ENST00000466620.5:n.1997C>T
ENST00000483362.1:n.1359C>T
ENST00000617732.1:c.*1120C>T	ENSP00000483343.1:n.*1120C>T
ENST00000619289.4:c.2073C>T	ENSP00000484600.1:p.Leu691=
NM_001282447.1:c.2433C>T	NP_001269376.1:p.Leu811=
NM_025220.3:c.2436C>T	NP_079496.1:p.Leu812=
NM_153202.2:c.2358C>T	NP_694882.1:p.Leu786=
XM_005260843.1:c.2475C>T	XP_005260900.1:p.Leu825=
XM_006723639.1:c.2472C>T	XP_006723702.1:p.Leu824=
XM_006723640.1:c.2466C>T	XP_006723703.1:p.Leu822=
XM_011529366.1:c.2472C>T	XP_011527668.1:p.Leu824=
XM_011529367.1:c.2433C>T	XP_011527669.1:p.Leu811=
XM_011529368.1:c.2397C>T	XP_011527670.1:p.Leu799=
XM_011529373.1:c.1473C>T	XP_011527675.1:p.Leu491=
XR_937153.1:n.2457C>T
XR_937154.1:n.2457C>T
XR_937155.1:n.2378C>T
XR_937157.1:n.2380C>T
NM_001282447.2:c.2433C>T	NP_001269376.1:p.Leu811=
NM_025220.4:c.2436C>T	NP_079496.1:p.Leu812=
NM_153202.3:c.2358C>T	NP_694882.1:p.Leu786=
XM_011529373.2:c.1473C>T	XP_011527675.1:p.Leu491=
XR_001754405.1:n.2544C>T
XR_002958534.1:n.2653C>T
NM_001282447.3:c.2433C>T	NP_001269376.1:p.Leu811=
NM_025220.5:c.2436C>T MANE Select	NP_079496.1:p.Leu812=
NM_153202.4:c.2358C>T	NP_694882.1:p.Leu786=