Canonical Allele Identifier: CA408103879

Gene: ADAM33

Linked Data

• MyVariant Identifiers: chr20:g.3650270G>A (hg19) ; chr20:g.3669623G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669623G>A , CM000682.2:g.3669623G>A	GRCh38
NC_000020.10:g.3650270G>A , CM000682.1:g.3650270G>A	GRCh37
NC_000020.9:g.3598270G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.2255C>T MANE Select	ENSP00000348912.3:p.Pro752Leu
ENST00000350009.6:c.2177C>T	ENSP00000322550.5:p.Pro726Leu
ENST00000356518.6:c.2255C>T	ENSP00000348912.2:p.Pro752Leu
ENST00000379861.8:c.2255C>T	ENSP00000369190.4:p.Pro752Leu
ENST00000466620.5:n.1816C>T
ENST00000483362.1:n.1003C>T
ENST00000617732.1:c.*942C>T	ENSP00000483343.1:n.*942C>T
ENST00000619289.4:c.1895C>T	ENSP00000484600.1:p.Pro632Leu
NM_001282447.1:c.2255C>T	NP_001269376.1:p.Pro752Leu
NM_025220.3:c.2255C>T	NP_079496.1:p.Pro752Leu
NM_153202.2:c.2177C>T	NP_694882.1:p.Pro726Leu
XM_005260843.1:c.2294C>T	XP_005260900.1:p.Pro765Leu
XM_006723639.1:c.2294C>T	XP_006723702.1:p.Pro765Leu
XM_006723640.1:c.2285C>T	XP_006723703.1:p.Pro762Leu
XM_011529366.1:c.2291C>T	XP_011527668.1:p.Pro764Leu
XM_011529367.1:c.2252C>T	XP_011527669.1:p.Pro751Leu
XM_011529368.1:c.2216C>T	XP_011527670.1:p.Pro739Leu
XM_011529373.1:c.1292C>T	XP_011527675.1:p.Pro431Leu
XR_937151.1:n.2384-253C>T
XR_937152.1:n.2384-253C>T
XR_937153.1:n.2279C>T
XR_937154.1:n.2279C>T
XR_937155.1:n.2200C>T
XR_937157.1:n.2202C>T
NM_001282447.2:c.2255C>T	NP_001269376.1:p.Pro752Leu
NM_025220.4:c.2255C>T	NP_079496.1:p.Pro752Leu
NM_153202.3:c.2177C>T	NP_694882.1:p.Pro726Leu
XM_011529373.2:c.1292C>T	XP_011527675.1:p.Pro431Leu
XR_001754405.1:n.2366C>T
XR_002958534.1:n.2475C>T
NM_001282447.3:c.2255C>T	NP_001269376.1:p.Pro752Leu
NM_025220.5:c.2255C>T MANE Select	NP_079496.1:p.Pro752Leu
NM_153202.4:c.2177C>T	NP_694882.1:p.Pro726Leu