Canonical Allele Identifier: CA9745068

Gene: ADAM33

Linked Data

• dbSNP Id: rs745931757
• ExAC: 20:3650251 C / T
• gnomAD v2: 20-3650251-C-T
• gnomAD v4: 20-3669604-C-T
• MyVariant Identifiers: chr20:g.3650251C>T (hg19) ; chr20:g.3669604C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669604C>T , CM000682.2:g.3669604C>T	GRCh38
NC_000020.10:g.3650251C>T , CM000682.1:g.3650251C>T	GRCh37
NC_000020.9:g.3598251C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2274G>A MANE Select	ENSP00000348912.3:p.Leu758=
ENST00000350009.6:c.2196G>A	ENSP00000322550.5:p.Leu732=
ENST00000356518.6:c.2274G>A	ENSP00000348912.2:p.Leu758=
ENST00000379861.8:c.2274G>A	ENSP00000369190.4:p.Leu758=
ENST00000466620.5:n.1835G>A
ENST00000483362.1:n.1022G>A
ENST00000617732.1:c.*961G>A	ENSP00000483343.1:n.*961G>A
ENST00000619289.4:c.1914G>A	ENSP00000484600.1:p.Leu638=
NM_001282447.1:c.2274G>A	NP_001269376.1:p.Leu758=
NM_025220.3:c.2274G>A	NP_079496.1:p.Leu758=
NM_153202.2:c.2196G>A	NP_694882.1:p.Leu732=
XM_005260843.1:c.2313G>A	XP_005260900.1:p.Leu771=
XM_006723639.1:c.2313G>A	XP_006723702.1:p.Leu771=
XM_006723640.1:c.2304G>A	XP_006723703.1:p.Leu768=
XM_011529366.1:c.2310G>A	XP_011527668.1:p.Leu770=
XM_011529367.1:c.2271G>A	XP_011527669.1:p.Leu757=
XM_011529368.1:c.2235G>A	XP_011527670.1:p.Leu745=
XM_011529373.1:c.1311G>A	XP_011527675.1:p.Leu437=
XR_937151.1:n.2384-234G>A
XR_937152.1:n.2384-234G>A
XR_937153.1:n.2298G>A
XR_937154.1:n.2298G>A
XR_937155.1:n.2219G>A
XR_937157.1:n.2221G>A
NM_001282447.2:c.2274G>A	NP_001269376.1:p.Leu758=
NM_025220.4:c.2274G>A	NP_079496.1:p.Leu758=
NM_153202.3:c.2196G>A	NP_694882.1:p.Leu732=
XM_011529373.2:c.1311G>A	XP_011527675.1:p.Leu437=
XR_001754405.1:n.2385G>A
XR_002958534.1:n.2494G>A
NM_001282447.3:c.2274G>A	NP_001269376.1:p.Leu758=
NM_025220.5:c.2274G>A MANE Select	NP_079496.1:p.Leu758=
NM_153202.4:c.2196G>A	NP_694882.1:p.Leu732=