Canonical Allele Identifier: CA408104988

Gene: ADAM33

Linked Data

• MyVariant Identifiers: chr20:g.3652298A>C (hg19) ; chr20:g.3671651A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671651A>C , CM000682.2:g.3671651A>C	GRCh38
NC_000020.10:g.3652298A>C , CM000682.1:g.3652298A>C	GRCh37
NC_000020.9:g.3600298A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1835T>G MANE Select	ENSP00000348912.3:p.Leu612Arg
ENST00000350009.6:c.1835T>G	ENSP00000322550.5:p.Leu612Arg
ENST00000356518.6:c.1835T>G	ENSP00000348912.2:p.Leu612Arg
ENST00000379861.8:c.1835T>G	ENSP00000369190.4:p.Leu612Arg
ENST00000466620.5:n.1474T>G
ENST00000617732.1:c.*632-194T>G	ENSP00000483343.1:n.*632-194T>G
ENST00000619289.4:c.1475T>G	ENSP00000484600.1:p.Leu492Arg
NM_001282447.1:c.1835T>G	NP_001269376.1:p.Leu612Arg
NM_025220.3:c.1835T>G	NP_079496.1:p.Leu612Arg
NM_153202.2:c.1835T>G	NP_694882.1:p.Leu612Arg
XM_005260843.1:c.1874T>G	XP_005260900.1:p.Leu625Arg
XM_006723639.1:c.1874T>G	XP_006723702.1:p.Leu625Arg
XM_006723640.1:c.1865T>G	XP_006723703.1:p.Leu622Arg
XM_011529366.1:c.1871T>G	XP_011527668.1:p.Leu624Arg
XM_011529367.1:c.1832T>G	XP_011527669.1:p.Leu611Arg
XM_011529368.1:c.1874T>G	XP_011527670.1:p.Leu625Arg
XM_011529369.1:c.1842T>G	XP_011527671.1:p.Thr614=
XM_011529370.1:c.1842T>G	XP_011527672.1:p.Thr614=
XM_011529373.1:c.872T>G	XP_011527675.1:p.Leu291Arg
XR_937151.1:n.1978T>G
XR_937152.1:n.1978T>G
XR_937153.1:n.1859T>G
XR_937154.1:n.1859T>G
XR_937155.1:n.1780T>G
XR_937157.1:n.1782T>G
NM_001282447.2:c.1835T>G	NP_001269376.1:p.Leu612Arg
NM_025220.4:c.1835T>G	NP_079496.1:p.Leu612Arg
NM_153202.3:c.1835T>G	NP_694882.1:p.Leu612Arg
XM_011529373.2:c.872T>G	XP_011527675.1:p.Leu291Arg
XR_001754405.1:n.1946T>G
XR_002958534.1:n.2055T>G
NM_001282447.3:c.1835T>G	NP_001269376.1:p.Leu612Arg
NM_025220.5:c.1835T>G MANE Select	NP_079496.1:p.Leu612Arg
NM_153202.4:c.1835T>G	NP_694882.1:p.Leu612Arg