Canonical Allele Identifier: CA408104744

Gene: ADAM33

Linked Data

• MyVariant Identifiers: chr20:g.3652104C>A (hg19) ; chr20:g.3671457C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671457C>A , CM000682.2:g.3671457C>A	GRCh38
NC_000020.10:g.3652104C>A , CM000682.1:g.3652104C>A	GRCh37
NC_000020.9:g.3600104C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1945G>T MANE Select	ENSP00000348912.3:p.Glu649Ter
ENST00000350009.6:c.1906-112G>T	ENSP00000322550.5:n.1906-112G>T
ENST00000356518.6:c.1945G>T	ENSP00000348912.2:p.Glu649Ter
ENST00000379861.8:c.1945G>T	ENSP00000369190.4:p.Glu649Ter
ENST00000466620.5:n.1545-112G>T
ENST00000617732.1:c.*632G>T	ENSP00000483343.1:n.*632G>T
ENST00000619289.4:c.1585G>T	ENSP00000484600.1:p.Glu529Ter
NM_001282447.1:c.1945G>T	NP_001269376.1:p.Glu649Ter
NM_025220.3:c.1945G>T	NP_079496.1:p.Glu649Ter
NM_153202.2:c.1906-112G>T	NP_694882.1:n.1906-112G>T
XM_005260843.1:c.1984G>T	XP_005260900.1:p.Glu662Ter
XM_006723639.1:c.1984G>T	XP_006723702.1:p.Glu662Ter
XM_006723640.1:c.1975G>T	XP_006723703.1:p.Glu659Ter
XM_011529366.1:c.1981G>T	XP_011527668.1:p.Glu661Ter
XM_011529367.1:c.1942G>T	XP_011527669.1:p.Glu648Ter
XM_011529368.1:c.1945-112G>T	XP_011527670.1:n.1945-112G>T
XM_011529369.1:c.*44G>T	XP_011527671.1:n.*44G>T
XM_011529370.1:c.*5-112G>T	XP_011527672.1:n.*5-112G>T
XM_011529373.1:c.982G>T	XP_011527675.1:p.Glu328Ter
XR_937151.1:n.2088G>T
XR_937152.1:n.2088G>T
XR_937153.1:n.1969G>T
XR_937154.1:n.1969G>T
XR_937155.1:n.1890G>T
XR_937157.1:n.1892G>T
NM_001282447.2:c.1945G>T	NP_001269376.1:p.Glu649Ter
NM_025220.4:c.1945G>T	NP_079496.1:p.Glu649Ter
NM_153202.3:c.1906-112G>T	NP_694882.1:n.1906-112G>T
XM_011529373.2:c.982G>T	XP_011527675.1:p.Glu328Ter
XR_001754405.1:n.2056G>T
XR_002958534.1:n.2165G>T
NM_001282447.3:c.1945G>T	NP_001269376.1:p.Glu649Ter
NM_025220.5:c.1945G>T MANE Select	NP_079496.1:p.Glu649Ter
NM_153202.4:c.1906-112G>T	NP_694882.1:n.1906-112G>T