Canonical Allele Identifier: CA9745258

Gene: ADAM33

Linked Data

• dbSNP Id: rs760193151
• ExAC: 20:3652383 T / G
• gnomAD v2: 20-3652383-T-G
• gnomAD v4: 20-3671736-T-G
• MyVariant Identifiers: chr20:g.3652383T>G (hg19) ; chr20:g.3671736T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671736T>G , CM000682.2:g.3671736T>G	GRCh38
NC_000020.10:g.3652383T>G , CM000682.1:g.3652383T>G	GRCh37
NC_000020.9:g.3600383T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1750A>C MANE Select	ENSP00000348912.3:p.Ser584Arg
ENST00000350009.6:c.1750A>C	ENSP00000322550.5:p.Ser584Arg
ENST00000356518.6:c.1750A>C	ENSP00000348912.2:p.Ser584Arg
ENST00000379861.8:c.1750A>C	ENSP00000369190.4:p.Ser584Arg
ENST00000466620.5:n.1389A>C
ENST00000617732.1:c.*632-279A>C	ENSP00000483343.1:n.*632-279A>C
ENST00000619289.4:c.1390A>C	ENSP00000484600.1:p.Ser464Arg
NM_001282447.1:c.1750A>C	NP_001269376.1:p.Ser584Arg
NM_025220.3:c.1750A>C	NP_079496.1:p.Ser584Arg
NM_153202.2:c.1750A>C	NP_694882.1:p.Ser584Arg
XM_005260843.1:c.1789A>C	XP_005260900.1:p.Ser597Arg
XM_006723639.1:c.1789A>C	XP_006723702.1:p.Ser597Arg
XM_006723640.1:c.1780A>C	XP_006723703.1:p.Ser594Arg
XM_011529366.1:c.1786A>C	XP_011527668.1:p.Ser596Arg
XM_011529367.1:c.1747A>C	XP_011527669.1:p.Ser583Arg
XM_011529368.1:c.1789A>C	XP_011527670.1:p.Ser597Arg
XM_011529369.1:c.1757A>C	XP_011527671.1:p.Gln586Pro
XM_011529370.1:c.1757A>C	XP_011527672.1:p.Gln586Pro
XM_011529373.1:c.787A>C	XP_011527675.1:p.Ser263Arg
XR_937151.1:n.1893A>C
XR_937152.1:n.1893A>C
XR_937153.1:n.1774A>C
XR_937154.1:n.1774A>C
XR_937155.1:n.1695A>C
XR_937157.1:n.1697A>C
NM_001282447.2:c.1750A>C	NP_001269376.1:p.Ser584Arg
NM_025220.4:c.1750A>C	NP_079496.1:p.Ser584Arg
NM_153202.3:c.1750A>C	NP_694882.1:p.Ser584Arg
XM_011529373.2:c.787A>C	XP_011527675.1:p.Ser263Arg
XR_001754405.1:n.1861A>C
XR_002958534.1:n.1970A>C
NM_001282447.3:c.1750A>C	NP_001269376.1:p.Ser584Arg
NM_025220.5:c.1750A>C MANE Select	NP_079496.1:p.Ser584Arg
NM_153202.4:c.1750A>C	NP_694882.1:p.Ser584Arg