Canonical Allele Identifier: CA509560029

Gene: ADAM33

Linked Data

• dbSNP Id: rs1318166429
• gnomAD v2: 20-3652354-C-T
• gnomAD v4: 20-3671707-C-T
• MyVariant Identifiers: chr20:g.3652354C>T (hg19) ; chr20:g.3671707C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671707C>T , CM000682.2:g.3671707C>T	GRCh38
NC_000020.10:g.3652354C>T , CM000682.1:g.3652354C>T	GRCh37
NC_000020.9:g.3600354C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1779G>A MANE Select	ENSP00000348912.3:p.Val593=
ENST00000350009.6:c.1779G>A	ENSP00000322550.5:p.Val593=
ENST00000356518.6:c.1779G>A	ENSP00000348912.2:p.Val593=
ENST00000379861.8:c.1779G>A	ENSP00000369190.4:p.Val593=
ENST00000466620.5:n.1418G>A
ENST00000617732.1:c.*632-250G>A	ENSP00000483343.1:n.*632-250G>A
ENST00000619289.4:c.1419G>A	ENSP00000484600.1:p.Val473=
NM_001282447.1:c.1779G>A	NP_001269376.1:p.Val593=
NM_025220.3:c.1779G>A	NP_079496.1:p.Val593=
NM_153202.2:c.1779G>A	NP_694882.1:p.Val593=
XM_005260843.1:c.1818G>A	XP_005260900.1:p.Val606=
XM_006723639.1:c.1818G>A	XP_006723702.1:p.Val606=
XM_006723640.1:c.1809G>A	XP_006723703.1:p.Val603=
XM_011529366.1:c.1815G>A	XP_011527668.1:p.Val605=
XM_011529367.1:c.1776G>A	XP_011527669.1:p.Val592=
XM_011529368.1:c.1818G>A	XP_011527670.1:p.Val606=
XM_011529369.1:c.1786G>A	XP_011527671.1:p.Gly596Arg
XM_011529370.1:c.1786G>A	XP_011527672.1:p.Gly596Arg
XM_011529373.1:c.816G>A	XP_011527675.1:p.Val272=
XR_937151.1:n.1922G>A
XR_937152.1:n.1922G>A
XR_937153.1:n.1803G>A
XR_937154.1:n.1803G>A
XR_937155.1:n.1724G>A
XR_937157.1:n.1726G>A
NM_001282447.2:c.1779G>A	NP_001269376.1:p.Val593=
NM_025220.4:c.1779G>A	NP_079496.1:p.Val593=
NM_153202.3:c.1779G>A	NP_694882.1:p.Val593=
XM_011529373.2:c.816G>A	XP_011527675.1:p.Val272=
XR_001754405.1:n.1890G>A
XR_002958534.1:n.1999G>A
NM_001282447.3:c.1779G>A	NP_001269376.1:p.Val593=
NM_025220.5:c.1779G>A MANE Select	NP_079496.1:p.Val593=
NM_153202.4:c.1779G>A	NP_694882.1:p.Val593=