Canonical Allele Identifier: CA408105232

Gene: ADAM33

Linked Data

• MyVariant Identifiers: chr20:g.3652418A>C (hg19) ; chr20:g.3671771A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671771A>C , CM000682.2:g.3671771A>C	GRCh38
NC_000020.10:g.3652418A>C , CM000682.1:g.3652418A>C	GRCh37
NC_000020.9:g.3600418A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1715T>G MANE Select	ENSP00000348912.3:p.Leu572Arg
ENST00000350009.6:c.1715T>G	ENSP00000322550.5:p.Leu572Arg
ENST00000356518.6:c.1715T>G	ENSP00000348912.2:p.Leu572Arg
ENST00000379861.8:c.1715T>G	ENSP00000369190.4:p.Leu572Arg
ENST00000466620.5:n.1354T>G
ENST00000617732.1:c.*632-314T>G	ENSP00000483343.1:n.*632-314T>G
ENST00000619289.4:c.1355T>G	ENSP00000484600.1:p.Leu452Arg
NM_001282447.1:c.1715T>G	NP_001269376.1:p.Leu572Arg
NM_025220.3:c.1715T>G	NP_079496.1:p.Leu572Arg
NM_153202.2:c.1715T>G	NP_694882.1:p.Leu572Arg
XM_005260843.1:c.1754T>G	XP_005260900.1:p.Leu585Arg
XM_006723639.1:c.1754T>G	XP_006723702.1:p.Leu585Arg
XM_006723640.1:c.1745T>G	XP_006723703.1:p.Leu582Arg
XM_011529366.1:c.1751T>G	XP_011527668.1:p.Leu584Arg
XM_011529367.1:c.1712T>G	XP_011527669.1:p.Leu571Arg
XM_011529368.1:c.1754T>G	XP_011527670.1:p.Leu585Arg
XM_011529369.1:c.1722T>G	XP_011527671.1:p.Pro574=
XM_011529370.1:c.1722T>G	XP_011527672.1:p.Pro574=
XM_011529373.1:c.752T>G	XP_011527675.1:p.Leu251Arg
XR_937151.1:n.1858T>G
XR_937152.1:n.1858T>G
XR_937153.1:n.1739T>G
XR_937154.1:n.1739T>G
XR_937155.1:n.1660T>G
XR_937157.1:n.1662T>G
NM_001282447.2:c.1715T>G	NP_001269376.1:p.Leu572Arg
NM_025220.4:c.1715T>G	NP_079496.1:p.Leu572Arg
NM_153202.3:c.1715T>G	NP_694882.1:p.Leu572Arg
XM_011529373.2:c.752T>G	XP_011527675.1:p.Leu251Arg
XR_001754405.1:n.1826T>G
XR_002958534.1:n.1935T>G
NM_001282447.3:c.1715T>G	NP_001269376.1:p.Leu572Arg
NM_025220.5:c.1715T>G MANE Select	NP_079496.1:p.Leu572Arg
NM_153202.4:c.1715T>G	NP_694882.1:p.Leu572Arg