Canonical Allele Identifier: CA408104124

Gene: ADAM33

Linked Data

• MyVariant Identifiers: chr20:g.3651747G>T (hg19) ; chr20:g.3671100G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671100G>T , CM000682.2:g.3671100G>T	GRCh38
NC_000020.10:g.3651747G>T , CM000682.1:g.3651747G>T	GRCh37
NC_000020.9:g.3599747G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2146C>A MANE Select	ENSP00000348912.3:p.Pro716Thr
ENST00000350009.6:c.2068C>A	ENSP00000322550.5:p.Pro690Thr
ENST00000356518.6:c.2146C>A	ENSP00000348912.2:p.Pro716Thr
ENST00000379861.8:c.2146C>A	ENSP00000369190.4:p.Pro716Thr
ENST00000466620.5:n.1707C>A
ENST00000617732.1:c.*833C>A	ENSP00000483343.1:n.*833C>A
ENST00000619289.4:c.1786C>A	ENSP00000484600.1:p.Pro596Thr
NM_001282447.1:c.2146C>A	NP_001269376.1:p.Pro716Thr
NM_025220.3:c.2146C>A	NP_079496.1:p.Pro716Thr
NM_153202.2:c.2068C>A	NP_694882.1:p.Pro690Thr
XM_005260843.1:c.2185C>A	XP_005260900.1:p.Pro729Thr
XM_006723639.1:c.2185C>A	XP_006723702.1:p.Pro729Thr
XM_006723640.1:c.2176C>A	XP_006723703.1:p.Pro726Thr
XM_011529366.1:c.2182C>A	XP_011527668.1:p.Pro728Thr
XM_011529367.1:c.2143C>A	XP_011527669.1:p.Pro715Thr
XM_011529368.1:c.2107C>A	XP_011527670.1:p.Pro703Thr
XM_011529373.1:c.1183C>A	XP_011527675.1:p.Pro395Thr
XR_937151.1:n.2289C>A
XR_937152.1:n.2289C>A
XR_937153.1:n.2170C>A
XR_937154.1:n.2170C>A
XR_937155.1:n.2091C>A
XR_937157.1:n.2093C>A
NM_001282447.2:c.2146C>A	NP_001269376.1:p.Pro716Thr
NM_025220.4:c.2146C>A	NP_079496.1:p.Pro716Thr
NM_153202.3:c.2068C>A	NP_694882.1:p.Pro690Thr
XM_011529373.2:c.1183C>A	XP_011527675.1:p.Pro395Thr
XR_001754405.1:n.2257C>A
XR_002958534.1:n.2366C>A
NM_001282447.3:c.2146C>A	NP_001269376.1:p.Pro716Thr
NM_025220.5:c.2146C>A MANE Select	NP_079496.1:p.Pro716Thr
NM_153202.4:c.2068C>A	NP_694882.1:p.Pro690Thr