Canonical Allele Identifier: CA9744991

Gene: ADAM33

Linked Data

• dbSNP Id: rs142167062
• ExAC: 20:3649619 G / T
• gnomAD v2: 20-3649619-G-T
• gnomAD v3: 20-3668972-G-T
• gnomAD v4: 20-3668972-G-T
• MyVariant Identifiers: chr20:g.3649619G>T (hg19) ; chr20:g.3668972G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3668972G>T , CM000682.2:g.3668972G>T	GRCh38
NC_000020.10:g.3649619G>T , CM000682.1:g.3649619G>T	GRCh37
NC_000020.9:g.3597619G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2433C>A MANE Select	ENSP00000348912.3:p.Cys811Ter
ENST00000350009.6:c.2355C>A	ENSP00000322550.5:p.Cys785Ter
ENST00000356518.6:c.2433C>A	ENSP00000348912.2:p.Cys811Ter
ENST00000379861.8:c.2430C>A	ENSP00000369190.4:p.Cys810Ter
ENST00000466620.5:n.1994C>A
ENST00000483362.1:n.1356C>A
ENST00000617732.1:c.*1117C>A	ENSP00000483343.1:n.*1117C>A
ENST00000619289.4:c.2070C>A	ENSP00000484600.1:p.Cys690Ter
NM_001282447.1:c.2430C>A	NP_001269376.1:p.Cys810Ter
NM_025220.3:c.2433C>A	NP_079496.1:p.Cys811Ter
NM_153202.2:c.2355C>A	NP_694882.1:p.Cys785Ter
XM_005260843.1:c.2472C>A	XP_005260900.1:p.Cys824Ter
XM_006723639.1:c.2469C>A	XP_006723702.1:p.Cys823Ter
XM_006723640.1:c.2463C>A	XP_006723703.1:p.Cys821Ter
XM_011529366.1:c.2469C>A	XP_011527668.1:p.Cys823Ter
XM_011529367.1:c.2430C>A	XP_011527669.1:p.Cys810Ter
XM_011529368.1:c.2394C>A	XP_011527670.1:p.Cys798Ter
XM_011529373.1:c.1470C>A	XP_011527675.1:p.Cys490Ter
XR_937152.1:n.2481C>A
XR_937153.1:n.2454C>A
XR_937154.1:n.2454C>A
XR_937155.1:n.2375C>A
XR_937157.1:n.2377C>A
NM_001282447.2:c.2430C>A	NP_001269376.1:p.Cys810Ter
NM_025220.4:c.2433C>A	NP_079496.1:p.Cys811Ter
NM_153202.3:c.2355C>A	NP_694882.1:p.Cys785Ter
XM_011529373.2:c.1470C>A	XP_011527675.1:p.Cys490Ter
XR_001754405.1:n.2541C>A
XR_002958534.1:n.2650C>A
NM_001282447.3:c.2430C>A	NP_001269376.1:p.Cys810Ter
NM_025220.5:c.2433C>A MANE Select	NP_079496.1:p.Cys811Ter
NM_153202.4:c.2355C>A	NP_694882.1:p.Cys785Ter