Canonical Allele Identifier: CA408103841

Gene: ADAM33

Linked Data

• MyVariant Identifiers: chr20:g.3650253G>C (hg19) ; chr20:g.3669606G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669606G>C , CM000682.2:g.3669606G>C	GRCh38
NC_000020.10:g.3650253G>C , CM000682.1:g.3650253G>C	GRCh37
NC_000020.9:g.3598253G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2272C>G MANE Select	ENSP00000348912.3:p.Leu758Val
ENST00000350009.6:c.2194C>G	ENSP00000322550.5:p.Leu732Val
ENST00000356518.6:c.2272C>G	ENSP00000348912.2:p.Leu758Val
ENST00000379861.8:c.2272C>G	ENSP00000369190.4:p.Leu758Val
ENST00000466620.5:n.1833C>G
ENST00000483362.1:n.1020C>G
ENST00000617732.1:c.*959C>G	ENSP00000483343.1:n.*959C>G
ENST00000619289.4:c.1912C>G	ENSP00000484600.1:p.Leu638Val
NM_001282447.1:c.2272C>G	NP_001269376.1:p.Leu758Val
NM_025220.3:c.2272C>G	NP_079496.1:p.Leu758Val
NM_153202.2:c.2194C>G	NP_694882.1:p.Leu732Val
XM_005260843.1:c.2311C>G	XP_005260900.1:p.Leu771Val
XM_006723639.1:c.2311C>G	XP_006723702.1:p.Leu771Val
XM_006723640.1:c.2302C>G	XP_006723703.1:p.Leu768Val
XM_011529366.1:c.2308C>G	XP_011527668.1:p.Leu770Val
XM_011529367.1:c.2269C>G	XP_011527669.1:p.Leu757Val
XM_011529368.1:c.2233C>G	XP_011527670.1:p.Leu745Val
XM_011529373.1:c.1309C>G	XP_011527675.1:p.Leu437Val
XR_937151.1:n.2384-236C>G
XR_937152.1:n.2384-236C>G
XR_937153.1:n.2296C>G
XR_937154.1:n.2296C>G
XR_937155.1:n.2217C>G
XR_937157.1:n.2219C>G
NM_001282447.2:c.2272C>G	NP_001269376.1:p.Leu758Val
NM_025220.4:c.2272C>G	NP_079496.1:p.Leu758Val
NM_153202.3:c.2194C>G	NP_694882.1:p.Leu732Val
XM_011529373.2:c.1309C>G	XP_011527675.1:p.Leu437Val
XR_001754405.1:n.2383C>G
XR_002958534.1:n.2492C>G
NM_001282447.3:c.2272C>G	NP_001269376.1:p.Leu758Val
NM_025220.5:c.2272C>G MANE Select	NP_079496.1:p.Leu758Val
NM_153202.4:c.2194C>G	NP_694882.1:p.Leu732Val