Canonical Allele Identifier: CA9745543

Gene: ADAM33

Linked Data

• dbSNP Id: rs369469795
• ExAC: 20:3654387 C / G
• gnomAD v2: 20-3654387-C-G
• gnomAD v3: 20-3673740-C-G
• gnomAD v4: 20-3673740-C-G
• MyVariant Identifiers: chr20:g.3654387C>G (hg19) ; chr20:g.3673740C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3673740C>G , CM000682.2:g.3673740C>G	GRCh38
NC_000020.10:g.3654387C>G , CM000682.1:g.3654387C>G	GRCh37
NC_000020.9:g.3602387C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.905+5G>C MANE Select	ENSP00000348912.3:n.905+5G>C
ENST00000350009.6:c.905+5G>C	ENSP00000322550.5:n.905+5G>C
ENST00000356518.6:c.905+5G>C	ENSP00000348912.2:n.905+5G>C
ENST00000379861.8:c.905+5G>C	ENSP00000369190.4:n.905+5G>C
ENST00000466620.5:n.8G>C
ENST00000617732.1:c.*631+572G>C	ENSP00000483343.1:n.*631+572G>C
ENST00000619289.4:c.806+104G>C	ENSP00000484600.1:n.806+104G>C
NM_001282447.1:c.905+5G>C	NP_001269376.1:n.905+5G>C
NM_025220.3:c.905+5G>C	NP_079496.1:n.905+5G>C
NM_153202.2:c.905+5G>C	NP_694882.1:n.905+5G>C
XM_005260843.1:c.944+5G>C	XP_005260900.1:n.944+5G>C
XM_006723639.1:c.944+5G>C	XP_006723702.1:n.944+5G>C
XM_006723640.1:c.944+5G>C	XP_006723703.1:n.944+5G>C
XM_006723644.2:c.944+5G>C	XP_006723707.1:n.944+5G>C
XM_011529366.1:c.941+5G>C	XP_011527668.1:n.941+5G>C
XM_011529367.1:c.902+5G>C	XP_011527669.1:n.902+5G>C
XM_011529368.1:c.944+5G>C	XP_011527670.1:n.944+5G>C
XM_011529369.1:c.944+5G>C	XP_011527671.1:n.944+5G>C
XM_011529370.1:c.944+5G>C	XP_011527672.1:n.944+5G>C
XM_011529371.1:c.944+5G>C	XP_011527673.1:n.944+5G>C
XM_011529372.1:c.944+5G>C	XP_011527674.1:n.944+5G>C
XM_011529373.1:c.-131G>C	XP_011527675.1:n.-131G>C
XR_937151.1:n.1048+5G>C
XR_937152.1:n.1048+5G>C
XR_937153.1:n.1048+5G>C
XR_937154.1:n.1053G>C
XR_937155.1:n.974G>C
XR_937157.1:n.1048+5G>C
NM_001282447.2:c.905+5G>C	NP_001269376.1:n.905+5G>C
NM_025220.4:c.905+5G>C	NP_079496.1:n.905+5G>C
NM_153202.3:c.905+5G>C	NP_694882.1:n.905+5G>C
XM_011529371.2:c.944+5G>C	XP_011527673.1:n.944+5G>C
XM_011529373.2:c.-131G>C	XP_011527675.1:n.-131G>C
XM_017028080.2:c.949G>C	XP_016883569.1:p.Val317Leu
XM_017028081.2:c.910G>C	XP_016883570.1:p.Val304Leu
XM_017028082.1:c.944+5G>C	XP_016883571.1:n.944+5G>C
XM_017028083.1:c.944+5G>C	XP_016883572.1:n.944+5G>C
XR_001754405.1:n.1048+5G>C
XR_002958534.1:n.1048+5G>C
NM_001282447.3:c.905+5G>C	NP_001269376.1:n.905+5G>C
NM_025220.5:c.905+5G>C MANE Select	NP_079496.1:n.905+5G>C
NM_153202.4:c.905+5G>C	NP_694882.1:n.905+5G>C