Canonical Allele Identifier: CA408103778

Gene: ADAM33

Linked Data

• gnomAD v4: 20-3669575-G-T
• COSMIC: COSM1411611
• MyVariant Identifiers: chr20:g.3650222G>T (hg19) ; chr20:g.3669575G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669575G>T , CM000682.2:g.3669575G>T	GRCh38
NC_000020.10:g.3650222G>T , CM000682.1:g.3650222G>T	GRCh37
NC_000020.9:g.3598222G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.2303C>A MANE Select	ENSP00000348912.3:p.Pro768His
ENST00000350009.6:c.2225C>A	ENSP00000322550.5:p.Pro742His
ENST00000356518.6:c.2303C>A	ENSP00000348912.2:p.Pro768His
ENST00000379861.8:c.2303C>A	ENSP00000369190.4:p.Pro768His
ENST00000466620.5:n.1864C>A
ENST00000483362.1:n.1051C>A
ENST00000617732.1:c.*990C>A	ENSP00000483343.1:n.*990C>A
ENST00000619289.4:c.1943C>A	ENSP00000484600.1:p.Pro648His
NM_001282447.1:c.2303C>A	NP_001269376.1:p.Pro768His
NM_025220.3:c.2303C>A	NP_079496.1:p.Pro768His
NM_153202.2:c.2225C>A	NP_694882.1:p.Pro742His
XM_005260843.1:c.2342C>A	XP_005260900.1:p.Pro781His
XM_006723639.1:c.2342C>A	XP_006723702.1:p.Pro781His
XM_006723640.1:c.2333C>A	XP_006723703.1:p.Pro778His
XM_011529366.1:c.2339C>A	XP_011527668.1:p.Pro780His
XM_011529367.1:c.2300C>A	XP_011527669.1:p.Pro767His
XM_011529368.1:c.2264C>A	XP_011527670.1:p.Pro755His
XM_011529373.1:c.1340C>A	XP_011527675.1:p.Pro447His
XR_937151.1:n.2384-205C>A
XR_937152.1:n.2384-205C>A
XR_937153.1:n.2327C>A
XR_937154.1:n.2327C>A
XR_937155.1:n.2248C>A
XR_937157.1:n.2250C>A
NM_001282447.2:c.2303C>A	NP_001269376.1:p.Pro768His
NM_025220.4:c.2303C>A	NP_079496.1:p.Pro768His
NM_153202.3:c.2225C>A	NP_694882.1:p.Pro742His
XM_011529373.2:c.1340C>A	XP_011527675.1:p.Pro447His
XR_001754405.1:n.2414C>A
XR_002958534.1:n.2523C>A
NM_001282447.3:c.2303C>A	NP_001269376.1:p.Pro768His
NM_025220.5:c.2303C>A MANE Select	NP_079496.1:p.Pro768His
NM_153202.4:c.2225C>A	NP_694882.1:p.Pro742His