Canonical Allele Identifier: CA408103839

Gene: ADAM33

Linked Data

• gnomAD v4: 20-3669605-A-G
• MyVariant Identifiers: chr20:g.3650252A>G (hg19) ; chr20:g.3669605A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669605A>G , CM000682.2:g.3669605A>G	GRCh38
NC_000020.10:g.3650252A>G , CM000682.1:g.3650252A>G	GRCh37
NC_000020.9:g.3598252A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2273T>C MANE Select	ENSP00000348912.3:p.Leu758Pro
ENST00000350009.6:c.2195T>C	ENSP00000322550.5:p.Leu732Pro
ENST00000356518.6:c.2273T>C	ENSP00000348912.2:p.Leu758Pro
ENST00000379861.8:c.2273T>C	ENSP00000369190.4:p.Leu758Pro
ENST00000466620.5:n.1834T>C
ENST00000483362.1:n.1021T>C
ENST00000617732.1:c.*960T>C	ENSP00000483343.1:n.*960T>C
ENST00000619289.4:c.1913T>C	ENSP00000484600.1:p.Leu638Pro
NM_001282447.1:c.2273T>C	NP_001269376.1:p.Leu758Pro
NM_025220.3:c.2273T>C	NP_079496.1:p.Leu758Pro
NM_153202.2:c.2195T>C	NP_694882.1:p.Leu732Pro
XM_005260843.1:c.2312T>C	XP_005260900.1:p.Leu771Pro
XM_006723639.1:c.2312T>C	XP_006723702.1:p.Leu771Pro
XM_006723640.1:c.2303T>C	XP_006723703.1:p.Leu768Pro
XM_011529366.1:c.2309T>C	XP_011527668.1:p.Leu770Pro
XM_011529367.1:c.2270T>C	XP_011527669.1:p.Leu757Pro
XM_011529368.1:c.2234T>C	XP_011527670.1:p.Leu745Pro
XM_011529373.1:c.1310T>C	XP_011527675.1:p.Leu437Pro
XR_937151.1:n.2384-235T>C
XR_937152.1:n.2384-235T>C
XR_937153.1:n.2297T>C
XR_937154.1:n.2297T>C
XR_937155.1:n.2218T>C
XR_937157.1:n.2220T>C
NM_001282447.2:c.2273T>C	NP_001269376.1:p.Leu758Pro
NM_025220.4:c.2273T>C	NP_079496.1:p.Leu758Pro
NM_153202.3:c.2195T>C	NP_694882.1:p.Leu732Pro
XM_011529373.2:c.1310T>C	XP_011527675.1:p.Leu437Pro
XR_001754405.1:n.2384T>C
XR_002958534.1:n.2493T>C
NM_001282447.3:c.2273T>C	NP_001269376.1:p.Leu758Pro
NM_025220.5:c.2273T>C MANE Select	NP_079496.1:p.Leu758Pro
NM_153202.4:c.2195T>C	NP_694882.1:p.Leu732Pro