Canonical Allele Identifier: CA9745223

Gene: ADAM33

Linked Data

• dbSNP Id: rs749152650
• ExAC: 20:3652216 G / C
• gnomAD v2: 20-3652216-G-C
• gnomAD v3: 20-3671569-G-C
• gnomAD v4: 20-3671569-G-C
• MyVariant Identifiers: chr20:g.3652216G>C (hg19) ; chr20:g.3671569G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671569G>C , CM000682.2:g.3671569G>C	GRCh38
NC_000020.10:g.3652216G>C , CM000682.1:g.3652216G>C	GRCh37
NC_000020.9:g.3600216G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.1905+12C>G MANE Select	ENSP00000348912.3:n.1905+12C>G
ENST00000350009.6:c.1905+12C>G	ENSP00000322550.5:n.1905+12C>G
ENST00000356518.6:c.1905+12C>G	ENSP00000348912.2:n.1905+12C>G
ENST00000379861.8:c.1905+12C>G	ENSP00000369190.4:n.1905+12C>G
ENST00000466620.5:n.1544+12C>G
ENST00000617732.1:c.*632-112C>G	ENSP00000483343.1:n.*632-112C>G
ENST00000619289.4:c.1545+12C>G	ENSP00000484600.1:n.1545+12C>G
NM_001282447.1:c.1905+12C>G	NP_001269376.1:n.1905+12C>G
NM_025220.3:c.1905+12C>G	NP_079496.1:n.1905+12C>G
NM_153202.2:c.1905+12C>G	NP_694882.1:n.1905+12C>G
XM_005260843.1:c.1944+12C>G	XP_005260900.1:n.1944+12C>G
XM_006723639.1:c.1944+12C>G	XP_006723702.1:n.1944+12C>G
XM_006723640.1:c.1935+12C>G	XP_006723703.1:n.1935+12C>G
XM_011529366.1:c.1941+12C>G	XP_011527668.1:n.1941+12C>G
XM_011529367.1:c.1902+12C>G	XP_011527669.1:n.1902+12C>G
XM_011529368.1:c.1944+12C>G	XP_011527670.1:n.1944+12C>G
XM_011529369.1:c.*4+12C>G	XP_011527671.1:n.*4+12C>G
XM_011529370.1:c.*4+12C>G	XP_011527672.1:n.*4+12C>G
XM_011529373.1:c.942+12C>G	XP_011527675.1:n.942+12C>G
XR_937151.1:n.2048+12C>G
XR_937152.1:n.2048+12C>G
XR_937153.1:n.1929+12C>G
XR_937154.1:n.1929+12C>G
XR_937155.1:n.1850+12C>G
XR_937157.1:n.1852+12C>G
NM_001282447.2:c.1905+12C>G	NP_001269376.1:n.1905+12C>G
NM_025220.4:c.1905+12C>G	NP_079496.1:n.1905+12C>G
NM_153202.3:c.1905+12C>G	NP_694882.1:n.1905+12C>G
XM_011529373.2:c.942+12C>G	XP_011527675.1:n.942+12C>G
XR_001754405.1:n.2016+12C>G
XR_002958534.1:n.2125+12C>G
NM_001282447.3:c.1905+12C>G	NP_001269376.1:n.1905+12C>G
NM_025220.5:c.1905+12C>G MANE Select	NP_079496.1:n.1905+12C>G
NM_153202.4:c.1905+12C>G	NP_694882.1:n.1905+12C>G